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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
Tuberculous dactylitis is a skeletal manifestation of tuberculosis, one of the commonest bacterial osteitis. It affects children more often than adults. The first radiological description of the condition is credited to Feilchenfeld in 1896; however, the first histological description was given by Rankin in 1886. Multiple bones are involved in children and usually only a single bone is involved in adults suffering from tuberculous dactylitis. Tuberculous dactylitis affects the short tubular bones of the hands and feet in children. It often follows a mild course without fever and acute inflammatory signs as opposed to acute osteomyelitis. There may be a gap of a few months to 2 to 3 years from the time of initial infection to the point of diagnosis.
Spina ventosa is the term given for tuberculous dactylitis. Nearly 85% of the patients of spina ventosa are below 6 years of age.The bones of hands are more commonly involved than those of the feet. Proximal phalanx of the index and middle fingers are the commonest sites of involvement.Up to nearly 7% of children with pulmonary tuberculosis may develop this condition. Spread to the skeletal system is believed to occur via blood and lymphatics.
In the pediatric age group, the marrow in the phalangeal bones are still active, a conducive place for the tuberculous bacilli to multiply. Slowly, the whole marrow space gets involved and this underlying granulomatous disease leads to expansion of the overlying soft cortex. Finally there is a fusiform dilation of the bone, with thinned out cortex and destruction of the marrow space leading to a balloon like shape; this cystic type of expansion of the bone is termed as spina ventosa.
Children in general are at greater risk because of their high activity levels. Children that have risk-prone behaviors are at even greater risk.
Over 2.5 million child abuse and neglect cases are reported every year, and thirty-five out of every hundred cases are physical abuse cases. Bone fractures are sometimes part of the physical abuse of children; knowing the symptoms of bone fractures in physical abuse and recognizing the actual risks in physical abuse will help forward the prevention of future abuse and injuries. Astoundingly, these abuse fractures, if not dealt with correctly, have a potential to lead to the death of the child.
Fracture patterns in abuse fractures that are very common with abuse are fractures in the growing part of a long bone (between the shaft and the separated part of the bone), fractures of the humeral shaft (long bone between the shoulder and elbow), ribs, scapula, outer end of the clavicle, and vertebra. Multiple fractures of varying age, bilateral fractures, and complex skull fractures are also linked to abuse. Fractures of varying ages occur in about thirteen percent of all cases.
Kyphoscoliosis may manifest in an individual at different stages of life and for various causes. When present at a young age ranging from childhood to teenage, Kyphoscoliosis may be present from birth due to congenital abnormalities including Spina bifida.
In a few cases, it may also be the result of keeping an abnormal posture or slouching for a prolonged period which causes an abnormal curvature of the spine.
Certain infections can also lead to the development of Kyphoscoliosis such as vertebral tuberculosis or general tuberculosis. Osteochondrodysplasia, a disorder related to the development of bone and cartilage, can also cause this disease.
In later ages, Kyphoscoliosis can occur in patients suffering from chronic degenerative diseases like osteoporosis and Osteoarthritis. This type of incidence is usually seen in patients above 50+ years of age and is mainly attributed to structural changes in the spine and adjoining tissues. Sometimes, a traumatic injury can also lead to its development.
Further, there are many idiopathic occurrences of Kyphoscoliosis where the exact cause is not very well known but is suspected to be caused by genetic factors.
There are many causes of scoliosis, including spinal deformities, neuromuscular problems, and inherited diseases or conditions caused by the environment.
An estimated 65% of scoliosis cases are idiopathic, about 15% are congenital and about 10% are secondary to a neuromuscular disease.
Idiopathic scoliosis represents a majority of cases, but its causes are largely unknown. Results of recent studies indicate potential heritability of the disorder. About 38% of variance in scoliosis risk is due to genetic factors, and 62% is due to the environment. The genetics are likely complex however, given the inconsistent inheritance and discordance among monozygotic twins. The specific genes that contribute to development of scoliosis have not been conclusively identified. At least one gene, "CHD7", has been associated with the idiopathic form of scoliosis.
Several candidate gene studies have found associations between idiopathic scoliosis and genes mediating bone formation, bone metabolism, and connective tissue structure. Several genome-wide studies have identified a number of loci as significantly linked to idiopathic scoliosis. In 2006 idiopathic scoliosis was linked with three microsatellite polymorphisms in the MATN1 gene (encoding for "Matrilin 1, cartilage matrix protein"). Fifty-three single nucleotide polymorphism markers in the DNA that are significantly associated with adolescent idiopathic scoliosis were identified through a genome-wide association study.
Adolescent idiopathic scoliosis (AIS) has no clear causal agent, and is generally believed to be multifactorial. The prevalence of scoliosis is 1% to 2% among adolescents, however the likelihood of progression among adolescents with a Cobb angle of less than 20° is about 10% to 20%.
Congenital scoliosis can be attributed to a malformation of the spine during weeks three to six "in utero" due to a failure of formation, a failure of segmentation, or a combination of stimuli. Incomplete and abnormal segmentation results in an abnormally shaped vertebra, at times fused to a normal vertebra or unilaterally fused vertebrae, leading to the abnormal lateral curvature of the spine.
Scoliosis affects 2–3% of the United States population, which is equivalent to about 5 to 9 million cases. A scoliosis spinal column's curve of 10° or less affects 1.5% to 3% of individuals. The age of onset is usually between 10 years and 15 years (can occur at a younger age) in children and adolescents, making up to 85% of those diagnosed. This is seen to be due to rapid growth spurts occurring at puberty when spinal development is most relenting to genetic and environmental influences. Because female adolescents undergo growth spurts before postural musculoskeletal maturity, scoliosis is more prevalent among females. Although fewer cases are present today using Cobb angle analysis for diagnosis, scoliosis remains a prevailing condition, appearing in otherwise healthy children. Incidence of idiopathic scoliosis (IS) stops after puberty when skeletal maturity is reached, however, further curvature may proceed during late adulthood due to vertebral osteoporosis and weakened musculature.
Cobb syndrome is a rare congenital disorder characterized by visible skin lesions with underlying spinal angiomas or arteriovenous malformations (AVMs). The skin lesions of Cobb syndrome typically are present as port wine stains or angiomas, but reports exist of angiokeratomas, angiolipomas, and lymphangioma circumscriptum. The intraspinal lesions may be angiomas or AVMs and occur at levels of the spinal cord corresponding to the affected skin dermatomes. They may in turn produce spinal cord dysfunction and weakness or paralysis.
The disorder was first described by Berenbruch in 1890, but became widely known only after Cobb's report in 1915. Cobb syndrome is thought to be more common in males and have no racial predilection, but only a few dozen cases are known. It is believed to be due to a sporadic mutation, since parents of affected children usually have no evidence of the disease.
A sacral dimple (also termed pilonidal dimple or spinal dimple) is a small depression in the skin, located just above the buttocks. The name comes from the sacrum, the bone at the end of the spine, over which the dimples are found.
Sacral dimples are rare, occurring in up to 4% of the population. The majority of these dimples are minor and do not represent any underlying disease; however, the minority may be a sign of disease, notably spina bifida. Even so, this is usually the spina bifida occulta form, which is the least serious kind.
Sacral dimples are usually spotted in post-natal checks by a pediatrician, who will check:
- If the floor of the dimple be seen to be covered with skin
- If there is a tuft of hair in the dimple
- Are there any other problems in the examination of the baby, such as weak lower limbs?
- The distance from the buttocks to the dimple; lower is better.
Additionally, this can be indicative of a possible kidney problem that can be checked with an ultrasound.
There are roughly 12–13 cases annually per 10,000 population in women receiving outpatient treatment and 3–4 cases requiring admission. In men, 2–3 cases per 10,000 are treated as outpatients and 1– cases/10,000 require admission. Young women are most often affected, probably reflecting sexual activity in that age group. Infants and the elderly are also at increased risk, reflecting anatomical changes and hormonal status. Xanthogranulomatous pyelonephritis is most common in middle-aged women. It can present somewhat differently in children, in whom it may be mistaken for Wilms' tumor.
Spinal disease (also known as a dorsopathy) refers to a condition impairing the backbone. These include various diseases of the back or spine ("dorso-"), such as kyphosis. Dorsalgia refers to those conditions causing back pain.
An example is scoliosis. Some other spinal diseases include Spinal Muscular Atrophy, Ankylosing Spondylitis, Lumbar Spinal Stenosis, Spina Bifida, Spinal tumors, Osteoporosis and Cauda Equina Syndrome.
The prevalence of Klippel–Feil syndrome is unknown due to the fact that there was no study done to determine the true prevalence.
Although the actual occurrence for the KFS syndrome is unknown, it is estimated to occur 1 in 40,000 to 42,000 newborns worldwide. In addition, females seem to be affected slightly more often than males.
Most healthy people working with infants and children face no special risk from CMV infection. However, for women of child-bearing age who previously have not been infected with CMV, there is a potential risk to the developing unborn child (the risk is described above in the Pregnancy section). Contact with children who are in day care, where CMV infection is commonly transmitted among young children (particularly toddlers), may be a source of exposure to CMV. Since CMV is transmitted through contact with infected body fluids, including urine and saliva, child care providers (meaning day care workers, special education teachers, as well as mothers) should be educated about the risks of CMV infection and the precautions they can take. Day care workers appear to be at a greater risk than hospital and other health care providers, and this may be due in part to the increased emphasis on personal hygiene in the health care setting.
Recommendations for individuals providing care for infants and children:
- Employees should be educated concerning CMV, its transmission, and hygienic practices, such as handwashing, which minimize the risk of infection.
- Susceptible nonpregnant women working with infants and children should not routinely be transferred to other work situations.
- Pregnant women working with infants and children should be informed of the risk of acquiring CMV infection and the possible effects on the unborn child.
- Routine laboratory testing for CMV antibody in female workers is not specifically recommended due to its high occurrence, but can be performed to determine their immune status.
There are many recognized spinal diseases, some more common than others. Spinal disease also includes cervical spine diseases, which are diseases in the vertebrae of the neck. A lot of flexibility exists within the cervical spine and because of that, it is common for an individual to damage that area, especially over a long period of time. Some of the common cervical spine diseases include degenerative disc disease, cervical stenosis, and cervical disc herniation. Degenerative disc disease occurs over time when the discs within each vertebra in the neck begin to fall apart and begin to disintegrate. Because each vertebra can cause pain in different areas of the body, the pain from the disease can be sensed in the back, leg, neck area, or even the arms. When the spinal canal begins to lose its gap and gets thinner, it can cause pain in the neck, which can also cause a numb feeling in the arms and hands. Those are symptoms of cervical stenosis disease. The discs between each vertebra have fibers that can begin to deteriorate, and this can occur in cervical disc herniation. This disease is less common in younger people as it is usually a function of aging.
Scoliosis refers to yet another form of abnormal curvature in which the person’s spine takes an “S” or “C” shape. Scoliosis too has similar forms of treatments available as Kyphosis including bracing, physical therapy and various types of surgeries. Typically, a human spine is straight but in Scoliosis patients; there may be a curve of ten degrees in either direction, left or right.
Worldwide, approximately 1 in 100 to 500 babies are born with congenital CMV. Approximately 1 in 3000 will show symptoms and 1 in 7000 will die.
Congenital HCMV infection occurs when the mother suffers a primary infection (or reactivation) during pregnancy. Due to the lower seroprevalence of HCMV in industrialized countries and higher socioeconomic groups, congenital infections are actually less common in poorer communities, where more women of child-bearing age are already seropositive. In industrialized countries up to 8% of HCMV seronegative mothers contract primary HCMV infection during pregnancy, of which roughly 50% will transmit to the fetus. Between 22–38% of infected fetuses are then born with symptoms, which may include pneumonia, gastrointestinal, retinal and neurological disease. HCMV infection occurs in roughly 1% of all neonates with those who are not congenitally infected contracting the infection possibly through breast milk. Other sources of neonatal infection are bodily fluids which are known to contain high titres in shedding individuals: saliva (<10copies/ml) and urine (<10copies/ml ) seem common routes of transmission.
The incidence of primary CMV infection in pregnant women in the United States varies from 1% to 3%. Healthy pregnant women are not at special risk for disease from CMV infection. When infected with CMV, most women have no symptoms and very few have a disease resembling infectious mononucleosis. It is their developing fetuses that may be at risk for congenital CMV disease. CMV remains the most important cause of congenital viral infection in the United States. HCMV is the most common cause of congenital infection in humans and intrauterine primary infections are more common than other well-known infections and syndromes, including Down Syndrome, Fetal Alcohol Syndrome, Spina Bifida, and Pediatric HIV/AIDS.
The vertebral column, also known as the backbone or spine, is part of the axial skeleton. The vertebral column is the defining characteristic of a vertebrate, in which the notochord (a flexible rod of uniform composition) found in all chordates has been replaced by a segmented series of bones—vertebrae separated by intervertebral discs. The vertebral column houses the spinal canal, a cavity that encloses and protects the spinal cord.
There are about 50,000 species of animals that have a vertebral column. The human vertebral column is one of the most-studied examples.
The heterogeneity of the Klippel–Feil syndrome has made it difficult to outline the diagnosis as well as the prognosis classes for this disease. Because of this, it has complicated the exact explanation of the genetic cause of the syndrome.
The prognosis for most individuals with KFS is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.
Congenital vertebral anomalies are a collection of malformations of the spine. Most around 85% are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability. This condition occurs in the womb. Congenital vertebral anomalies include alterations of the shape and number of vertebrae.
Studies have shown that obesity of the mother increases the risk of neural tube disorders such as iniencephaly by 1.7 fold while severe obesity increases the risk by over 3 fold.
Several studies have reported that life expectancy appears to be normal for people with CCD.
Once a mother has given birth to a child with iniencephaly, risk of reoccurrence increases to 1-5%.
The disease is present at birth, but clinical manifestations are often not seen until later in life. Patients typically experience the sudden onset of pain, numbness, or weakness in their extremities as children or young adults. These symptoms may remit or remain stable and often can be localized below a specific dermatome. Symptoms tend to worsen over time either by discrete steps or continuously. Early development of weakness may portend a more aggressive course. Less commonly, weakness or bowel and bladder dysfunction may be presenting symptoms.
The major debility from Cobb syndrome is the onset of weakness, paresis, sensory loss, and loss of bowel and bladder control. A possible complication if treatment is delayed is Foix-Alajouanine disease or subacute necrotic myelopathy due to thrombosis in the spinal angioma.
Cutaneous lesions may be distributed anywhere in the dermatome, from midline back to abdomen. Midline back lesions may be associated with spina bifida. The cutaneous lesion may be very faint and may be more pronounced when the patient performs a Valsalva maneuver which increases abdominal pressure and causes preferential filling of the cutaneous angioma. Neurological examination will reveal weakness or paralysis and numbness or decreased sensation with a sharp upper cutoff.
Generally, there are two forms of syringomyelia: congenital and acquired. (In addition, one form of the disorder involves the brainstem. The brainstem controls many of our vital functions, such as respiration and heartbeat. When syrinxes affect the brainstem, the condition is called syringobulbia.)
A low socioeconomic status in a deprived neighborhood may include exposure to “environmental stressors and risk factors.” Socioeconomic inequalities are commonly measured by the Cartairs-Morris score, Index of Multiple Deprivation, Townsend deprivation index, and the Jarman score. The Jarman score, for example, considers “unemployment, overcrowding, single parents, under-fives, elderly living alone, ethnicity, low social class and residential mobility.” In Vos’ meta-analysis these indices are used to view the effect of low SES neighborhoods on maternal health. In the meta-analysis, data from individual studies were collected from 1985 up until 2008. Vos concludes that a correlation exists between prenatal adversities and deprived neighborhoods. Other studies have shown that low SES is closely associated with the development of the fetus in utero and growth retardation. Studies also suggest that children born in low SES families are “likely to be born prematurely, at low birth weight, or with asphyxia, a birth defect, a disability, fetal alcohol syndrome, or AIDS.” Bradley and Corwyn also suggest that congenital disorders arise from the mother’s lack of nutrition, a poor lifestyle, maternal substance abuse and “living in a neighborhood that contains hazards affecting fetal development (toxic waste dumps).” In a meta-analysis that viewed how inequalities influenced maternal health, it was suggested that deprived neighborhoods often promoted behaviors such as smoking, drug and alcohol use. After controlling for socioeconomic factors and ethnicity, several individual studies demonstrated an association with outcomes such as perinatal mortality and preterm birth.