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Torus palatinus "(pl. tori palatini)" [palatinus torus "(pl. palatal tori)" in English] is a bony protrusion on the palate. Palatal tori are usually present on the midline of the hard palate. Most palatal tori are less than 2 cm in diameter, but their size can change throughout life.
Prevalence of palatal tori ranges from 9–60% and are more common than bony growths occurring on the mandible, known as torus mandibularis. Palatal tori are more common in Asian, Native American and Inuit populations, and twice more common in females. In the United States, the prevalence is 20% - 35% of the population with similar findings between black and white people.
Although some research suggest palatal tori to be an autosomal dominant trait, it is generally believed that palatal tori are caused by several factors. They are more common in early adult life and can increase in size. In some older people, the size of the tori may decrease due to bone resorption. It is believed that tori of the lower jaw are the result of local stresses and not solely on genetic influences.
Sometimes, the tori are categorized by their appearance. Arising as a broad base and a smooth surface, flat tori are located on the midline of the palate and extend symmetrically to either side. Spindle tori have a ridge located at their midline. Nodular tori have multiple bony growths that each have their own base. Lobular tori have multiple bony growths with a common base.
Palatal tori are usually a clinical finding with no treatment necessary. It is possible for ulcers to form on the area of the tori due to repeated trauma. Also, the tori may complicate the fabrication of dentures. If removal of the tori is needed, surgery can be done to reduce the amount of bone present.
A maxillary torus is only removed in instances where it is problematic. This includes cases where in an edentulous patient, it extends to the vibrating line, preventing a posterior seal of the denture and posterior seal at the fovea palatinae. Other indications for removal include frequent trauma to the torus, owing to its size or the thinness of the mucoperiosteum overlying it, disturbance of speech, and rapid growth in patients who are cancer-phobic.
An oral torus is a lesion made of compact bone and occurs along the palate or the mandible inside the mouth. The palatal torus or "torus palatinus" occurs along the palate, close to the midline, whereas the mandibular torus or "torus mandibularis" occur along the lingual side of the mandible.
Occurrences of tori are more frequent in women than in men. Tori are associated with adulthood and rarely appear before the age of 15. The palatal version of tori have a higher occurrence in Native American and Inuit populations.
Treatment is not necessary unless they become an obstruction to chewing or prosthetic appliances.
Buccal exostoses are considered different entities to osteomas (e.g. seen in Gardner syndrome), even though the two lesions are histopathologically identical.
Formation on the lower jaw occurs much less commonly than on the upper jaw. They are painless and have no risk of turning into cancer, although they may slowly expand over years, or sometimes more rapidly.
Torus mandibularis "(pl. tori mandibulares)" (or mandibular torus "(pl. mandibular tori)" in English) is a bony growth in the mandible along the surface nearest to the tongue. Mandibular tori are usually present near the premolars and above the location of the mylohyoid muscle's attachment to the mandible. In 90% of cases, there is a torus on both the left and right sides, making this finding a predominantly bilateral condition.
The prevalence of mandibular tori ranges from 5% - 40%. It is less common than bony growths occurring on the palate, known as torus palatinus. Mandibular tori are more common in Asian and Inuit populations, and slightly more common in males. In the United States, the prevalence is 7% - 10% of the population.
It is believed that mandibular tori are caused by several factors. They are more common in early adult life and are associated with bruxism. The size of the tori may fluctuate throughout life, and in some cases the tori can be large enough to touch each other in the midline of mouth. Consequently, it is believed that mandibular tori are the result of local stresses and not due solely to genetic influences.
Mandibular tori are usually a clinical finding with no treatment necessary. It is possible for ulcers to form in the area of the tori due to trauma. The tori may also complicate the fabrication of dentures. If removal of the tori is needed, surgery can be done to reduce the amount of bone, but the tori may reform in cases where nearby teeth still receive local stresses.
Major symptoms of PWS include:
Birthmarks: Effected PWS patients suffer from large, flat, pink staining on the skin. This staining is a result of the capillary malformations that have the tendency to increase the blood flow near the surface of the skin causing the staining. Because of the staining color they are sometimes referred to as “port-wine stains”. “Port-wine stain” or discoloration of the skin due to vascular malformation is also referred as Nevus flammeus.
Hypertrophy: Hypertrophy refers to excessive growth of the bone and soft tissue. In PWS patients a limb is overgrown and hypertrophy is usually seen in the affected limb.
Multiple arteriovenous fistulas: PWS patients also suffer from multiple AVFs that occur in conjunction with capillary malformations. AVFs occur because of abnormal connections between arteries and veins. Normally, blood flows from arteries to capillaries then to veins. But for AFV patients, because of the abnormal artery and vein connections, blood flows directly from arteries into the veins completely bypassing the capillaries. These irregular connections affect the blood circulation and may lead to life-threatening complications such as abnormal bleeding and heart failure. AVFs can be identified by: large, purplish bulging veins, swelling in limbs, decreased in blood pressure, fatigue and heart failure.
Capillary arteriovenous malformations: Vascular system disorder is the cause of the capillary malformations. Here, the capillaries are enlarged and increase the blood flow towards the surface of the skin. Because of the capillary malformations, the skin has multiple small, round, pink or even red dots. For most of the affected individuals, these malformations occur on the face, arms and or legs. The spots may be visible right from birth itself or they may develop during childhood years. If capillary malformations occur by themselves, it is not a huge threat to life. But when these occur in conjunction with AVFs then it is a clear indicator of PWS and may be serious depending on the severity of the malformations.
The Human Phenotype Ontology (HPO) reports of additional symptoms in PWS patients. HPO is an active database that collects and researches on the relationships between phenotypic abnormalities and biochemical networks. This is an useful database as it has information and data on some of the rarest diseases such as PWS. According to HPO, the symptoms which are reported very frequently in PWS patients include: abnormal bleeding, hypertrophy of the lower limb, hypertrophy of the upper limb, nevus flammeus or staining of the skin, peripheral arteriovenous fistula, telangiectasia of the skin. Frequent to occasional symptoms include: varicose veins, congestive heart failure, glaucoma and headache.
Abnormal bleeding: some skin lesions are prone to bleed easily.
Peripheral arteriovenous fistula: abnormal communication between artery and vein that is a direct result of the abnormal connection or wiring between the artery and vein.
Telangiectasia of the skin: Telangiectasia is a condition where tiny blood vessels become widened and form threadlike red lines and or patterns on the skin. Because of their appearance and formation of web-like patterns they are also known as spider veins. These patterns are referred as telangiectases.
Varicose veins: Enlarged, swollen and twisted veins.
Congestive heart failure: This is a condition in which the heart’s ability to meet the requirements of the body is diminished. The cardiac output is decreased and the amount of blood pumped is not adequate enough to keep the circulation from the body and lungs going.
Glaucoma: Glaucoma is a combination of diseases that cause damage to the optic nerve and may result in vision loss and blindness.
Headache: pain in the head.
Lymphangiomatosis has been reported in every region of the abdomen, though the most reported sites involve the intestines and peritoneum; spleen, kidneys, and liver. Often there are no symptoms until late in the progression of the disease. When they do occur, symptoms include abdominal pain and/or distension; nausea, vomiting, diarrhea; decreased appetite and malnourishment. When the disease affects the kidneys the symptoms include flank pain, abdominal distension, blood in the urine, and, possibly, elevated blood pressure, which may result in it being confused with other cystic renal disease. When lymphangiomatosis occurs in the liver and/or spleen it may be confused with polycystic liver disease. Symptoms may include abdominal fullness and distension; anemia, disseminated intravascular coagulopathy (DIC), fluid accumulation in the abdomen(ascites), decreased appetite, weight loss, fatigue; late findings include liver failure.
Symptoms of lymphangiomatosis in the skeletal system are the same as those of Gorham’s disease. Frequently asymptomatic, skeletal lymphangiomatosis may be discovered incidentally or when a pathological fracture occurs. Patients may experience pain of varying severity in areas around the effected bone. When the disease occurs in the bones of the spine, neurological symptoms such as numbness and tingling may occur due to spinal nerve compression. Progression of disease in the spine may lead to paralysis. Lymphangiomatosis in conjunction with Chiari I malformation also has been reported.
Fiddler’s neck usually involves highly localized lichenification, mild hyperpigmentation, and erythema where the chin rest or instrument body presses against the skin of the neck. Other signs and symptoms include scale buildup, cyst and scar formation, papules and pustules related to local infection, and focal edema. In Blum & Ritter’s study in West Germany (1990), they found that 27% of their population had only minor issues, 72% had a palpable mass at the site, and 23% reported pain and other signs of inflammation such as hyperthermia, pulsation, and cystic, pustular, or papular lesions. Size of masses were an average of 2 cm in diameter ranging up to 4 cm, some being associated with purulent drainage, continuous discharge, and crusting. Dystrophic calcinosis cutis has also been reported. Other serious sequelae include sialolithiasis of the submandibular gland and adenolymphoma of the parotid gland.
The histopathology of fiddler’s neck frequently shows hyperkeratosis and acanthosis, along with plugging of follicles. Histiocytic infiltration with granulomas to foreign body and follicular cysts are also common. Foreign body granulomas are thought to derive from abrasion of the wooden surface of the chin rest and its absorption into the superficial dermis. The location and complex mechanism of causation for fiddler’s neck give rise to a wider spectrum of skin changes when compared to contact dermatitis from more common irritants. Fiddler’s neck can be differentiated from rosacea and sarcoid reaction with granulomas.
The symptoms can occur anywhere between days to months after administration of the offending medication, depending on the dose and speed of administration (Baack and Burgdorf, 1991; Demirçay, 1997). The patient first experiences tingling and/or numbness of the palms and soles that evolves into painful, symmetric, and well-demarcated swelling and red plaques. This is followed by peeling of the skin and resolution of the symptoms (Apisarnthanarax and Duvic 2003).
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease, is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene. It is characterized by increased bone density and benign bony structures on the palate.
Chemotherapy-induced acral erythema (also known as palmar-plantar erythrodysesthesia, palmoplantar erythrodysesthesia, or hand-foot syndrome) is reddening, swelling, numbness and desquamation (skin sloughing or peeling) on palms of the hands and soles of the feet (and, occasionally, on the knees, elbows, and elsewhere) that can occur after chemotherapy in patients with cancer. Hand-foot syndrome is also rarely seen in sickle-cell disease. These skin changes usually are well demarcated. Acral erythema typically disappears within a few weeks after discontinuation of the offending drug.
Fiddler's neck, sometimes referred to as a "violin hickey," or a "viola love bite" is an occupational disease that affects violin and viola players.
It is a cutaneous condition usually characterized by redness, thickening, and inflammation on the left side of the neck below the angle of the jaw where the instrument is held. Acne-like lesions and cysts may form at the site due to foreign body reactions, and infections may also occur due to poor hygiene. The primary causes of fiddler's neck are constant friction and local pressure. It is well known among professional orchestra musicians but is "not well recognized by dermatologists", and a red mark on the left side of the neck under the jaw "functions as an identifying sign" of a violinist or violist "in public without seeing the instrument""."
Although the presence of fiddler's neck is sometimes used as an indicator of a violinist's skill, or 'battle scars' from constant practice, many violinists never develop fiddler's neck, due to differences in skin sensitivity, playing habits, and the materials used in the construction of the instrument. An accomplished professional player could practice hard their whole life and never develop fiddler's neck.
The common symptoms in all reported cases of primrose syndrome include ossified pinnae, learning disabilities or mental retardation, hearing problems, movement disorders (ataxia, paralysis, and parkinsonism among others (likely due, in part, to calcification of the basal ganglia), a torus palatinus (a neoplasm on the mouth's hard palate), muscle atrophy, and distorted facial features. Other symptoms usually occur, different in each case, but it is unknown whether or not these symptoms are caused by the same disease.
Many conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square meters, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin. Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm that forms the dermis and subcutaneous tissues.
The epidermis is the most superficial layer of skin, a squamous epithelium with several strata: the stratum corneum, stratum lucidum, stratum granulosum, stratum spinosum, and stratum basale. Nourishment is provided to these layers by diffusion from the dermis, since the epidermis is without direct blood supply. The epidermis contains four cell types: keratinocytes, melanocytes, Langerhans cells, and Merkel cells. Of these, keratinocytes are the major component, constituting roughly 95 percent of the epidermis. This stratified squamous epithelium is maintained by cell division within the stratum basale, in which differentiating cells slowly displace outwards through the stratum spinosum to the stratum corneum, where cells are continually shed from the surface. In normal skin, the rate of production equals the rate of loss; about two weeks are needed for a cell to migrate from the basal cell layer to the top of the granular cell layer, and an additional two weeks to cross the stratum corneum.
The dermis is the layer of skin between the epidermis and subcutaneous tissue, and comprises two sections, the papillary dermis and the reticular dermis. The superficial papillary dermis with the overlying rete ridges of the epidermis, between which the two layers interact through the basement membrane zone. Structural components of the dermis are collagen, elastic fibers, and ground substance. Within these components are the pilosebaceous units, arrector pili muscles, and the eccrine and apocrine glands. The dermis contains two vascular networks that run parallel to the skin surface—one superficial and one deep plexus—which are connected by vertical communicating vessels. The function of blood vessels within the dermis is fourfold: to supply nutrition, to regulate temperature, to modulate inflammation, and to participate in wound healing.
The subcutaneous tissue is a layer of fat between the dermis and underlying fascia. This tissue may be further divided into two components, the actual fatty layer, or panniculus adiposus, and a deeper vestigial layer of muscle, the panniculus carnosus. The main cellular component of this tissue is the adipocyte, or fat cell. The structure of this tissue is composed of septal (i.e. linear strands) and lobular compartments, which differ in microscopic appearance. Functionally, the subcutaneous fat insulates the body, absorbs trauma, and serves as a reserve energy source.
Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology (chronic blistering conditions), etiology (skin conditions resulting from physical factors), and so on. Clinically, the diagnosis of any particular skin condition is made by gathering pertinent information regarding the presenting skin lesion(s), including the location (such as arms, head, legs), symptoms (pruritus, pain), duration (acute or chronic), arrangement (solitary, generalized, annular, linear), morphology (macules, papules, vesicles), and color (red, blue, brown, black, white, yellow). Diagnosis of many conditions often also requires a skin biopsy which yields histologic information that can be correlated with the clinical presentation and any laboratory data.
Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. It was first described in 1982 in Scotland's Royal National Larbert Institution by Dr D.A.A. Primrose.
Primrose syndrome appears to occur spontaneously, regardless of family history. The cause is currently unknown and there are no known treatments.
Parkes Weber Syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare disease with only 0.3% of the world's population known to have this syndrome. In 1907, a British dermatologist, Frederick Parkes Weber first described this syndrome and hence this disease was named Parkes Weber Syndrome. In the body, vascular system consists of arteries, veins and capillaries. When abnormalities such as: vascular malformation, capillary arteriovenous malformations (AVMs), arteriovenous fistulas (AVFs) and overgrowth of a limb occur together in combination and disturb the complex network of blood vessels of the vascular system -it is known as PWS. The capillary malformations and AVFs are known to be present from the birth. In some cases PWS is a genetic condition where RASA1 gene is mutated and displays autosomal dominant inheritance pattern. If PWS is genetic then most patients show multiple capillary malformations. Patients that do not have multiple capillary malformations most likely did not inherit PWS and do not have RASA1 mutations. In such cases the cause of PWS is often unknown and is sporadic as most cases often are.
Often times PWS is mixed up with Klippel–Trénaunay syndrome (KTS). These two diseases are similar but they are not quite the same. PWS occurs because of vascular malformation that may or may not be because of genetic mutations, where as Klippel-Trenaunay syndrome is a condition in which blood vessels and or lymph vessels do not form properly. PWS and KTS almost have the same symptoms except PWS patients are seen with both AVMs and AVFs occur together along with lymph hypertrophy.
An individual with Panner disease most commonly experiences elbow pain near the capitellum. Other symptoms include:
- Stiffness in the elbow
- Elbow swelling
- Limited range of motion
- Elbow extension limitation
- Tenderness
These symptoms worsen with physical activity such a throwing a ball or gymnastics for example. The symptoms begin unexpectedly and are often present for several days or weeks, and the symptoms tend to last even longer.
A great many diseases involve the mouth, jaws and orofacial skin. Some example pathologies which can involve the oral and maxillofacial region are listed. Some are more common than others, and this list is by no means complete. The examples are considered according to a surgical sieve.
Oral and maxillofacial pathology (also termed oral pathology, stomatognathic disease, dental disease, or mouth disease) refers to the diseases of the mouth ("oral cavity" or "stoma"), jaws ("maxillae" or "gnath") and related structures such as salivary glands, temporomandibular joints, facial muscles and perioral skin (the skin around the mouth). The mouth is an important organ with many different functions. It is also prone to a variety of medical and dental disorders.
The specialty oral and maxillofacial pathology is concerned with diagnosis and study of the causes and effects of diseases affecting the oral and maxillofacial region. It is sometimes considered to be a specialty of dentistry and pathology. Sometimes the term head and neck pathology is used instead, but this might imply that the pathologist deals with otorhinolaryngologic disorders (i.e. ear, nose and throat) in addition to maxillofacial disorders. In this role there is some overlap between the expertise of head and neck pathologists and that of endocrine pathologists.
Panner disease is an osteochondrosis of the capitellum of the elbow. Panner disease is primarily seen in boys between the ages of five and ten years old. Panner disease is often caused by excessive throwing due to valgus stress. The disease causes pain and stiffness in the affected elbow and may limit extension; the affected elbow is usually on the dominant arm the child uses. The disease may be associated with pitching and athletic activity. On radiographs, the capitellum may appear irregular with areas of radiolucency. Treatment is symptomatic, with a good prognosis. Treatment is minimal and includes restricting athletic activity to allow for the elbow to heal and for pain to be relieved. The disease is named after the Danish radiologist Hans Jessen Panner (1871–1930).
Symptoms of obstetric fistula include:
- Flatulence, urinary or fecal incontinence, which may be continual or only happen at night
- Foul-smelling vaginal discharge
- Repeated vaginal or urinary tract infections
- Irritation or pain in the vagina or surrounding areas
- Pain during sexual activity
Other effects of obstetric fistulae include stillborn babies due to prolonged labor, which happens 85% to 100% of the time, severe ulcerations of the vaginal tract, "foot drop", which is the paralysis of the lower limbs caused by nerve damage, making it impossible for women to walk, infection of the fistula forming an abscess, and up to two-thirds of the women become amenorrhoeic.
Obstetric fistulae have far-reaching physical, social, economic, and psychological consequences for the women affected.
According to UNFPA, “Due to the prolonged obstructed labour, the baby almost inevitably dies, and the woman is left with chronic incontinence. Unable to control the flow of urine or faeces, or both, she may be abandoned by her husband and family and ostracized by her community. Without treatment, her prospects for work and family life are virtually non-existent.”
Obstetric fistula is a medical condition in which a hole develops in the birth canal as a result of childbirth. This can be between the vagina and rectum, ureter, or bladder. It can result in incontinence of urine or feces. Complications may include depression, infertility, social isolation, and poverty
Risk factors include obstructed labor, poor access to medical care, malnutrition, and teenage pregnancy. The underlying mechanism is poor blood flow to the affected area for a prolonged period of time. Diagnosis is generally based on symptoms and may be supported by use of methylene blue.
Obstetric fistulas are almost entirely preventable with appropriate use of cesarean section. Treatment is typically by surgery. If treated early the use of a urinary catheter may help with healing. Counselling may also be useful. An estimated 2 million women in sub-Saharan Africa, Asia, the Arab region, and Latin America have the condition with about 75,000 new cases developing a year. It occurs very rarely in the developed world. It is considered a disease of poverty.
MRI: medial temporal lobe signal change bilateral hippocampal lesions, with signals that were hypointense in IR sequences and hyperintense in FLAIR.