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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
Necrobiotic xanthogranuloma (also known as "Necrobiotic xanthogranuloma with paraproteinemia") is a multisystem disease that affects older adults, and is characterized by prominent skin findings.
Tracheobronchomegaly is a very rare congenital disorder of the lung primarily characterized by an abnormal widening of the upper airways. The abnormally widened trachea and mainstem bronchi are associated with recurrent lower respiratory tract infection and copious purulent sputum production, eventually leading to bronchiectasis and other respiratory complications.
Woodring et al. (1991) suggested the following diagnostic criteria for tracheomegaly in adults based on chest radiography:
- Adult Males: Tracheal transverse diameter > 25 mm and sagittal diameter > 27 mm.
- Adult Females: Tracheal transverse diameter > 21 mm and sagittal diameter > 23 mm.
Equine multinodular pulmonary fibrosis is a chronic lung disease of horses. There is evidence that the disease is caused by infection with a gammaherpesvirus, equine herpesvirus 5. The disease affects adult (usually older) horses, causing weight loss and reduced ability to exercise as a result of the formation of nodular lesions in the lungs.
Steatocystoma simplex, also known as a "simple sebaceous duct cyst" or "solitary steatocystoma", is a cutaneous condition characterized by a skin lesion that occurs with equal frequency in adult women and men, and is typically found on the face, trunk, or extremities.
Renal cysts and diabetes syndrome (RCAD), also known as MODY 5, is a form of maturity onset diabetes of the young.
HNF1β-related MODY is one of the less common forms of MODY, with some distinctive clinical features, including atrophy of the pancreas and several forms of renal disease. HNF1β, also known as transcription factor 2 (TCF2), is involved in early stages of embryonic development of several organs, including the pancreas, where it contributes to differentiation of pancreatic endocrine Ngn3 cell progenitors from non-endocrine embryonic duct cells. The gene is on chromosome 17q.
The degree of insulin deficiency is variable. Diabetes can develop from infancy through middle adult life, and some family members who carry the gene remain free of diabetes into later adult life. Most of those who develop diabetes show atrophy of the entire pancreas, with mild or subclincal deficiency of exocrine as well as endocrine function.
The non-pancreatic manifestations are even more variable. Kidney and genitourinary malformation and diseases may occur, but inconsistently even within a family, and the specific conditions include a range of apparently unrelated anomalies and processes. The most common genitourinary condition is cystic kidney disease, but there are many varieties even of this. Renal effects begin with structural alterations (small kidneys, renal cysts, anomalies of the renal pelvis and calices), but a significant number develop slowly progressive renal failure associated with chronic cystic disease of the kidneys. In some cases, renal cysts may be detected in utero. Kidney disease may develop before or after hyperglycemia, and a significant number of people with MODY5 are discovered in renal clinics.
With or without kidney disease, some people with forms of HNF1β have had various minor or major anomalies of the reproductive system. Male defects have included epididymal cysts, agenesis of the vas deferens, or infertility due to abnormal spermatozoa. Affected women have been found to have vaginal agenesis, hypoplastic, or bicornuate uterus.
Liver enzyme elevations are common, but clinically significant liver disease is not. Hyperuricaemia and early onset gout have occurred.
Juvenile xanthogranuloma (JXG) is a form of histiocytosis, classified as "non-Langerhans cell histiocytosis", or more specifically, "type 2".
It is a rare skin disorder that primarily affects children under one year of age but can also be found in older children and adults. It was first described in 1905 by Adamson. In 5% to 17% of people, the disorder is present at birth, but the median age of onset is two years. JXG is a benign idiopathic cutaneous granulomatous tumor and the most common form of non-Langerhans cell histiocytosis (non-LHC). The lesions appear as orange-red macules or papules and are usually located on the face, neck, and upper trunk. They may also appear at the groin, scrotum, penis, clitoris, toenail, palms, soles, lips, lungs, bone, heart, and gastrointestinal tract more rarely. JXG usually manifests with multiple lesions on the head and neck in cases with children under six months of age. The condition usually resolves spontaneously over one to five years. A biopsy of the lesion is critical to confirm the diagnosis.
Ocular JXG manifests in up to 10% of people with JXG and may affect their vision. The presence of JXG in the eye can cause spontaneous hyphema, secondary glaucoma or even blindness. It is most often seen in the iris but may be found on the eyelid, corneoscleral limbus, conjunctiva, orbit, retina, choroid, disc, or optic nerve. Of patients with ocular JXG, 92% are younger than the age of two. Although cutaneous JXG usually disappear spontaneously, ocular lesions rarely improve spontaneously and require treatment. Treatments that have been used include surgical excision, intralesional steroid injection, cryotherapy, and low dose radiotherapy. In the case of a resistant or reoccurring lesion, chemotherapy has been used as a treatment. Ocular JXG is usually unilateral and presents with a tumor, a red eye with signs of uveitis, unilateral glaucoma, spontaneous hyphema or heterochromia iridis. Diagnosing and treating the patient as early as possible contributes to the most positive visual outcome.
Histiocytic disorders like JXG are identified by the cells that make them up. Immunohistochemical analysis is used to discern the immunoreactivity to certain antibodies in these analyses. JXG is a non-LHC disorder which is a varied group of disorders defined by the accumulation of histiocytes that do not meet criteria to be diagnosed as Langerhans cells. JXG is not metastatic and may be present with lipid deposits. JXG is often accompanied with other disorders such as neurofibromatosis type one and juvenile chronic myelogenous leukemia. Juvenile variety xantogranuloma can be distinguished from xanthoma by the spread of the lesion and the lack of lipid abnormalities. Other similar diagnoses include molluscum contagiosum, hemangioma and neurofibroma.
Adult blaschkitis is a rare inflammatory skin condition presenting as pruritic papules and vesicles along multiple lines of Blaschko.
Acrospiroma (also known as hidradenoma) is a cutaneous condition, primarily occurring in adult women, that is a form of benign adnexal neoplasm closely related to poroma.
One third of individuals with pinworm infection are totally asymptomatic. The main symptoms are pruritus ani and perineal pruritus, i.e., itching in and around the anus and around the perineum. The itching occurs mainly during the night, and is caused by the female pinworms migrating to lay eggs around the anus. Both the migrating females and the clumps of eggs are irritating, but the mechanisms causing the intense pruritus have not been explained. The intensity of the itching varies, and it can be described as tickling, crawling sensations, or even acute pain. The itching leads to continuously scratching the area around the anus, which can further result in tearing of the skin and complications such as secondary bacterial infections, including bacterial dermatitis (i.e., skin inflammation) and folliculitis (i.e., hair follicle inflammation). General symptoms are insomnia (i.e., persistent difficulties to sleep) and restlessness. A considerable proportion of children suffer from loss of appetite, weight loss, irritability, emotional instability, and enuresis (i.e., inability to control urination).
Pinworms cannot damage the skin, and they do not normally migrate through tissues. However, in women they may move onto the vulva and into the vagina, from there moving to the external orifice of the uterus, and onwards to the uterine cavity, fallopian tubes, ovaries, and peritoneal cavity. This can cause vulvovaginitis, i.e. an inflammation of the vulva and vagina. This causes vaginal discharge and pruritus vulvae, i.e., itchiness of the vulva. The pinworms can also enter the urethra, and presumably, they carry intestinal bacteria with them. According to Gutierrez (2000), a statistically significant correlation between pinworm infection and urinary tract infections has been shown; however, Burkhart & Burkhart (2005) maintain that the incidence of pinworms as a cause of urinary tract infections remains unknown. Incidentally, one report indicated that 36% of young girls with a urinary tract infection also had pinworms. Dysuria (i.e., painful urination) has been associated with pinworm infection.
The relationship between pinworm infestation and appendicitis has been researched, but there is a lack of clear consensus on the matter: while Gutierres (2005) maintains that there exists a consensus that pinworms do not produce the inflammatory reaction, Cook (1994) states that it is controversial whether pinworms are causatively related to acute appendicitis, and Burkhart & Burkhart (2004) state that pinworm infection causes symptoms of appendicitis to surface.
The infection is most commonly caused by abrasions on different soft tissues through which the bacteria, "Actinobacillus lignieresii," enters. These soft tissues include subcutaneous tissues, the tongue, lymph nodes, lungs, and various tissues in the gastrointestinal tract. The injury results in different forms and locations of the disease depending on the location of the tissue. The commensal bacteria is also commonly found in the oral cavity, gastrointestinal tract, and reproductive tract, sometimes resulting in disease. There are generally one or two cases of actinobacillosis per herd found in adult cows, foals or adult horses, and other similar animals.
The clinical presentation of both the adult and pediatric patient with pleural empyema depends upon several factors, including the causative micro-organism. Most cases present themselves in the setting of a pneumonia, although up to one third of patients do not have clinical signs of pneumonia and as many as 25% of cases are associated with trauma (including surgery). Typical symptoms include cough, chest pain, shortness of breath and fever.
Self-healing papular mucinosis is a skin condition caused by fibroblasts producing abnormally large amounts of mucopolysaccharides, and may present in adult and juvenile forms. The juvenile variant is also called self-healing juvenile cutaneous mucinosis.
Pleural empyema is a collection of pus in the pleural cavity caused by microorganisms, usually bacteria. Often it happens in the context of a pneumonia, injury, or chest surgery. It is one of various kinds of pleural effusion. There are three stages: exudative, when there is an increase in pleural fluid with or without the presence of pus; fibrinopurulent, when fibrous septa form localized pus pockets; and the final organizing stage, when there is scarring of the pleura membranes with possible inability of the lung to expand. Simple pleural effusions occur in up to 40% of bacterial pneumonias. They are usually small and resolve with appropriate antibiotic therapy. If however an empyema develops additional intervention is required.
Mouth actinobacillosis of cattle must be differentiated from actinomycosis that affects bone tissues of the maxilla.
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.
The main symptoms are diarrhea and colicky abdominal pain. Because symptoms are often mild, infections can often be easily overlooked but diagnosis is important. Flukes attach to the wall of the small intestine, but are often asymptomatic unless in large numbers. Infection can occur from eating a single infected fish source. Peripheral eosinophilia is associated especially in early phase. When present in large numbers, can cause chronic intermittent diarrhea, nausea, and vague abdominal pains. Clinical complaints can also include lethargy and anorexia. In acute metagonimiasis, clinical manifestations are developed only 5–7 days after infection. Heavy infection has also been associated with epigastric distress, fatigue, and malaise.
Occasionally, flukes invade the mucosa and eggs deposited in tissue may gain access to circulation. This can then lead to eggs embolizing in the brain, spinal cord, or heart. Granulomas may form around eggs and can cause seizures, neurologic deficits, or cardiac insufficiency.
An interesting case in Japan found Diabetes Mellitus (DM) to be a sign of chronic infection with intracerebral hemorrhages as the acute sign of aggravation. Two months after administering the appropriate drug, Praziquantel, the ICHs were gone, as was the man's Diabetes Mellitus. This unique case shows the potential of additional symptoms associated with metagonimiasis that are still unknown.
The disease has a long incubation period, and therefore signs usually occur in adult animals (over 2 years of age). Clinical signs resemble a non-specific progressive pneumonia, including poor body condition and, particularly after exercise, respiratory difficulty. Unless a concurrent lung infection is present, affected sheep continue to eat. The only sign specific to OPA is a watery nasal discharge, consisting of lung fluid produced by the affected lung tissue; lifting the hind legs of the animal above the level of its head will cause large volumes of this fluid to flow from the nostrils.
There are no reliable tests for the diagnosis of OPA in live animals which are suitable for use on farms, so diagnosis can only be confirmed at necropsy (post-mortem examination). On necropsy, lungs are interspersed with multifocal tumors. Some of these are small discrete nodules and others will involve the entire half of a lung lobule. JSRV acutely transforms the lung epithelia into cancerous cells, with type-2 pneumocytes and club cells being the likely target for JSRV transformation. The tumors have overactive secretory functions, which are a hallmark of OPA.
The retroviral antigen levels of JSRV are very high in OPA tumors and can be detected in the lung secretions of infected sheep. It is thought that infected animals secrete the virus before showing signs, so the virus is easily spread within flocks.
Ovine pulmonary adenocarcinoma (OPA), also known as ovine pulmonary adenomatosis, or jaagsiekte, is a chronic and contagious disease of the lungs of sheep and goats. OPA is caused by a retrovirus called jaagsiekte sheep retrovirus (JSRV).
Metagonimiasis is a disease caused by an intestinal trematode, most commonly "Metagonimus yokagawai", but sometimes by "M. takashii" or "M. miyatai". The metagonimiasis-causing flukes are one of two minute flukes called the heterophyids. Metagonimiasis was described by Katsurasa in 1911–1913 when he first observed eggs of "M. yokagawai" in feces (date is disputed in various studies). "M. takahashii" was described later first by Suzuki in 1930 and then "M. Miyatai" was described in 1984 by Saito.
Stained adult fluke causing metagonimiasis
Pipecolic acidemia, also called hyperpipecolic acidemia or hyperpipecolatemia, is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect.
Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA), as well as other peroxisomal disorders, including both infantile and adult Refsum disease, and Zellweger syndrome.
The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
Pinworm infection, also known as enterobiasis, is a human parasitic disease caused by the pinworm. The most common symptom is itching in the anal area. This can make sleeping difficult. The period of time from swallowing eggs to the appearance of new eggs around the anus is 4 to 8 weeks. Some people who are infected do not have symptoms.
The disease is spread between people by pinworm eggs. The eggs initially occur around the anus and can survive for up to three weeks in the environment. They may be swallowed following contamination of the hands, food, or other articles. Those at risk are those who go to school, live in a health care institution or prison, or take care of people who are infected. Other animals do not spread the disease. Diagnosis is by seeing the worms which are about one centimeter or the eggs under a microscope.
Treatment is typically with two doses of the medications mebendazole, pyrantel pamoate, or albendazole two weeks apart. Everyone who lives with or takes care of an infected person should be treated at the same time. Washing personal items in hot water after each dose of medication is recommended. Good handwashing, daily bathing in the morning, and daily changing of underwear can help prevent reinfection.
Pinworm infections commonly occur in all parts of the world. It is the most common worm infection in the developed world. School aged children are the most commonly infected. In the United States about 20% of people at one point in time develop pinworm. Infection rates among high risk groups may be as high as 50%. It is not considered a serious disease. Pinworms are believed to have affected humans throughout history.
Although tapeworms in the intestine usually cause no symptoms, some people experience upper abdominal discomfort, diarrhea, and loss of appetite. Anemia may develop in people with the fish tapeworm. Infection is generally recognized when the infected person passes segments of proglottids in the stool (which look like white worms), especially if a segment is moving.
Rarely, worms may cause obstruction of the intestine, and very rarely, T. solium larvae can migrate to the brain causing severe headaches, seizures and other neurological problems. Neurocysticercosis can progress for years before the patient displays symptoms.
In at least one case, cancer cells from a tapeworm spread to the human host in an immunocompromised man, producing swelling, obstructions, and other conventional symptoms of human-originated cancer.
Adult flukes are known to be quite harmless, as they do not attack on the host tissue. It is the immature flukes which are most damaging as they get attached to the intestinal wall, literally and actively sloughing off of the tissue. This necrosis is indicated by haemorrhage in faeces, which in turn is a sign of severe enteritis. Under such condition the animals become anorexic and lethargic. It is often accompanied by pronounced diarrhoea, dehydration, oedema, polydipsia, anaemia, listlessness and weight loss. In sheep profuse diarrhoea usually develops two to four weeks after initial infection. If infection is not properly attended death can ensue within 20 days, and in a farm mortality can be very high. In fact there are intermittent reports of mortality as high as 80% among sheep and cattle. Sometimes chronic form is also seen with severe emaciation, anaemia, rough coat, mucosal oedema, thickened duodenum and oedema in the sub maxillary space. The terminally sick animals lie prostrate on the ground, completely emaciated until they die. In buffalos, severe haemorrhage was found to be associated with liver cirrhosis and nodular hepatitis.
A common symptom of laryngeal papillomatosis is a perceptual change in voice quality. More specifically, hoarseness is observed. As a consequence of the narrowing of the laryngeal or tracheal parts of the airway, shortness of breath, chronic cough and stridor (i.e. noisy breathing which can sound like a whistle or a snore), can be present. As the disease progresses, occurrence of secondary symptoms such as dysphagia, pneumonia, acute respiratory distress syndrome, failure to thrive, and recurrent upper respiratory infections can be diagnosed. In children, symptoms are usually more severe and often mistaken for manifestations of other diseases such as asthma, croup or bronchitis. Therefore, diagnosis is usually delayed.