A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of NUTM1 rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor.

Inheritance Eisen et al. (1997, 1998) studied 3,359 mono- and dizygotic U.S. male twin pairs who had served in the military and found that inherited factors explained between 37 and 55% of the prevalence of 5 individual symptoms of pathologic gambling (attempts to wind back losses at same place, gambling larger amounts than intended, repeated efforts to reduce or stop gambling, frequent preoccupation with gambling, and increase betting to maintain interest) from DSM-III-R for which data was informative.

urge to continuously gamble despite harmful negative consequences or a desire to stop Problem gambling Other names Ludomania, degenerate gambling, gambling addiction, compulsive gambling, gambling disorder Specialty Psychiatry , clinical psychology Symptoms Spending a lot of money and time in casino/sports betting, Video game addiction [1] Addiction and dependence glossary [2] [3] [4] [5] addiction – a biopsychosocial disorder characterized by persistent use of drugs (including alcohol) despite substantial harm and adverse consequences addictive behavior – a behavior that is both rewarding and reinforcing addictive drug – a drug that is both rewarding and reinforcing dependence – an adaptive state associated with a withdrawal syndrome upon cessation of repeated exposure to a stimulus (e.g., drug intake) drug sensitization or reverse tolerance – the escalating effect of a drug resulting from repeated administration at a given dose drug withdrawal – symptoms that occur upon cessation of repeated drug use physical dependence – dependence that involves persistent physical– somatic withdrawal symptoms (e.g., fatigue and delirium tremens ) psychological dependence – dependence that involves emotional–motivational withdrawal symptoms (e.g., dysphoria and anhedonia ) reinforcing stimuli – stimuli that increase the probability of repeating behaviors paired with them rewarding stimuli – stimuli that the brain interprets as intrinsically positive and desirable or as something to approach sensitization – an amplified response to a stimulus resulting from repeated exposure to it substance use disorder – a condition in which the use of substances leads to clinically and functionally significant impairment or distress tolerance – the diminishing effect of a drug resulting from repeated administration at a given dose v t e Problem gambling is an urge to gamble continuously despite negative consequences or a desire to stop. ... These authors point out that social factors may be a far more important determinant of gambling behaviour than brain chemicals and they suggest that a social model may be more useful in understanding the issue. [29] For example, an apparent increase in problem gambling in the UK may be better understood as a consequence of changes in legislation which came into force in 2007 and enabled casinos, bookmakers, and online betting sites to advertise on TV and radio for the first time and which eased restrictions on the opening of betting shops and online gambling sites. [30] Pathological gambling is similar to many other impulse control disorders such as kleptomania . [31] According to evidence from both community- and clinic-based studies, individuals who are pathological gamblers are highly likely to exhibit other psychiatric problems concurrently, including substance use disorders , mood and anxiety disorders , or personality disorders . [32] Pathological gambling shows several similarities with substance abuse. ... Jackson and Shane A.Thomas a survey done from 1994–2008 in Tasmania gave results that gambling participation rates have risen rather than fallen over this period. [53] Prevalence [ edit ] Europe [ edit ] In Europe, the rate of problem gambling is typically 0.5 to 3 percent. [54] The "British Gambling Prevalence Survey 2007", conducted by the United Kingdom Gambling Commission, found approximately 0.6 percent of the adult population had problem gambling issues—the same percentage as in 1999. [55] The highest prevalence of problem gambling was found among those who participated in spread betting (14.7%), fixed odds betting terminals (11.2%), and betting exchanges (9.8%). [55] In Norway, a December 2007 study showed the amount of present problem gamblers was 0.7 percent. [56] With gambling addiction on the rise and across Europe in particular, the voices calling gambling a disease has been gaining grounds. ... "Neural Correlates of Perceived Control and Risky Decision Making in Pathological Gamblers". Biological Psychology . 92 (2): 365–372. doi : 10.1016/j.biopsycho.2012.11.015 . ... PMID 25167843 . ^ "Problem Gaming" (PDF) . European Gaming and Betting Association . Retrieved April 4, 2012 . ^ a b Wardle, Heather; Sproston, Kerry; Orford, Jim; Erens, Bob; Griffiths, Mark; Constantine, Rebecca; Pigott, Sarah (September 2007).

Yao syndrome (formerly called NOD2 -associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with Yao syndrome, part of the immune system called the innate immune response is turned on (activated) abnormally, which causes fevers and inflammation-related damage to tissues and organs. Based on this process, Yao syndrome is classified as an autoinflammatory disease. Autoinflammatory diseases are distinct from autoimmune diseases; these two groups of diseases involve abnormalities in different parts of the immune system.

A number sign (#) is used with this entry because of evidence that susceptibility to Yao syndrome (YAOS) is conferred by variation in the NOD2 gene (605956) on chromosome 16q12. Description Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017). Clinical Features Yao et al. (2011) described 7 unrelated patients with apparent autoinflammatory disease with multisystem involvement. Mean age at disease onset was 40.7 years, and the patients characteristically presented with periodic fever, dermatitis, and inflammatory polyarthritis.

Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage around the ribs. Specifically, people with Tietze syndrome have swelling of the cartilage that joins the upper ribs to the breastbone. This is called the costochondral junction. Signs and symptoms of this condition usually develop in people who are under the age of 40. Symptoms include mild to severe chest pain that may extend into the arms and shoulders. The chest, shoulders, and arms may also have redness and warmth. In some cases, Tietze syndrome may resolve on its own without treatment, while other people experience patterns of pain followed by some relief of pain.

Overview Costochondritis (kos-toe-kon-DRY-tis) is an inflammation of the cartilage that connects a rib to the breastbone (sternum). Pain caused by costochondritis might mimic that of a heart attack or other heart conditions. Costochondritis Costochondritis most commonly affects the upper ribs on the left-hand side of your body. Pain is often worst where the rib cartilage attaches to the breastbone (sternum), but it can also occur where the cartilage attaches to the rib. Costochondritis is sometimes known as chest wall pain syndrome, costosternal syndrome or costosternal chondrodynia.

Not to be confused with Tietz syndrome . This article needs additional citations for verification . Please help improve this article by adding citations to reliable sources . Unsourced material may be challenged and removed. Find sources: "Tietze syndrome" – news · newspapers · books · scholar · JSTOR ( August 2010 ) ( Learn how and when to remove this template message ) Tietze syndrome Other names Chondropathia tuberosa, costochondral junction syndrome Sternocostals and interchondral articulations. Anterior view. ( Costal cartilages visible on diagram.) Specialty Rheumatology Tietze syndrome (also called costochondral junction syndrome ) is a benign inflammation of one or more of the costal cartilages . [1] It was first described in 1921 by the German surgeon Alexander Tietze (1864–1927). [2] [3] Tietze syndrome is not the same as costochondritis . [4] Tietze syndrome is differentiated from costochondritis by swelling of the costal cartilages, which does not appear in costochondritis. Like costochondritis, it was at one time thought to be associated with, or caused by, a viral infection acquired during surgery.

A number sign (#) is used with this entry because of evidence that microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, can be caused by homozygous mutation in the LTBP2 gene (602091) on chromosome 14q24. Description Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600). Clinical Features Ben Yahia et al. (2009) studied a sister and brother with isolated microspherophakia from a consanguineous Tunisian family.

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.

In a 2-stage genomewide scan of 71 multicase leprosy families (365 individuals) in Brazil, Miller et al. (2004) found suggestive evidence for linkage to chromosomes 6p21.32, 17q22, and 20p13.

A number sign (#) is used with this entry because this form of susceptibility to leprosy (LPRS5) is associated with a polymorphism in the TLR1 gene (601194). A polymorphism in the TLR1 gene is also associated with protection against leprosy. See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping LPRS5 is associated with a polymorphism in the TLR1 gene, which Taguchi et al. (1996) mapped to chromosome 4p14. Molecular Genetics Schuring et al. (2009) studied association of an asn248-to-ser (N248S; 601194.0002) SNP in the TLR1 gene and leprosy in a Bangladeshi population consisting of 842 patients and 543 controls.

See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping In a study in a Vietnamese population, Mira et al. (2003) found significant evidence for a susceptibility gene for leprosy on chromosome region 6q25; maximum likelihood binomial (MLB) lod score was 4.31. They confirmed this by family-based association analysis in an independent panel of 208 Vietnamese leprosy simplex families (i.e., families with 2 unaffected parents and 1 affected child). Mira et al. (2003) confirmed the linkage of paucibacillary leprosy to 10p13 (LPRS1; 609888), as reported by Siddiqui et al. (2001). Their evidence suggested that the 6q25 locus is involved in leprosy of both the paucibacillary and multibacillary types.

A number sign (#) is used with this entry because this form of susceptibility to leprosy (LPRS3) is associated with a polymorphism in the TLR2 gene (603028) on chromosome 4q32. See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping LPRS3 is associated with a polymorphism in the TLR2 gene, which Rock et al. (1998) mapped to chromosome 4q32. Molecular Genetics Kang and Chae (2001) identified an arg677-to-trp polymorphism (R677W; 603028.0001) in the intracellular domain of TLR2 in 10 (22%) of 45 Korean lepromatous leprosy patients, but not in any of 41 Korean tuberculoid patients or 45 Korean controls. They concluded that the R677W polymorphism in TLR2 has a role in susceptibility to lepromatous leprosy.

See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping Zhang et al. (2009) performed a genomewide association study to identify leprosy susceptibility loci in 706 patients and 1,225 controls, all of whom were self-identified Han Chinese from eastern China. Diagnosis was made on the basis of the consensus of at least 2 dermatologists. Patients and controls reported an absence of M. tuberculosis and other chronic infections. Controls lacked a history of leprosy in themselves and their families, as well as autoimmune and systemic disorders.

A chronic infectious disease affecting primarily the skin and peripheral nervous system. Epidemiology Worldwide annual incidence is estimated at 250,000 cases, with a large majority in India and Brazil. Clinical description A wide clinical spectrum has been described from a polar tuberculoid (localized) form (TT) to a polar lepromatous (disseminated) one (LL). Borderline forms exist: borderline tuberculoid, borderline borderline and borderline lepromatous (BT, BB, BL). Tuberculoid leprosy (TLep) or paucibacillary form includes TT and BT and lepromatous leprosy (LLep) or multibacillary form includes LL, BL and BB.

Chronic infection caused by bacteria Mycobacteria lepræ and lepromatosis For other uses, see Leprosy (disambiguation) . Leprosy Other names Hansen's disease (HD) [1] Rash on the chest and abdomen due to leprosy Pronunciation / ˈ l ɛ p r ə s i / [2] Specialty Infectious disease Symptoms Decreased ability to feel pain [3] Causes Mycobacterium leprae or Mycobacterium lepromatosis [4] [5] Risk factors Close contact with a case of leprosy, living in poverty [3] [6] Treatment Multidrug therapy [4] Medication Rifampicin , dapsone , clofazimine [3] Frequency 209,000 (2018) [7] Leprosy , also known as Hansen's disease ( HD ), is a long-term infection by the bacteria Mycobacterium leprae or Mycobacterium lepromatosis . [4] [8] Infection can lead to damage of the nerves , respiratory tract , skin, and eyes. [4] This nerve damage may result in a lack of ability to feel pain, which can lead to the loss of parts of a person's extremities from repeated injuries or infection due to unnoticed wounds. [3] An infected person may also experience muscle weakness and poor eyesight. [3] Leprosy symptoms may begin within one year, but for some people symptoms may take 20 years or more to occur. [4] Leprosy is spread between people, although extensive contact is necessary. [3] [9] About 95% of people who contract M. leprae do not develop the disease. [10] Spread is thought to occur through a cough or contact with fluid from the nose of a person infected by leprosy. [9] [10] Genetic factors and immune function play a role in how easily a person catches the disease. [10] [11] Leprosy does not spread during pregnancy to the unborn child, or through sexual contact. [9] Leprosy occurs more commonly among people living in poverty. [3] There are two main types of the disease – paucibacillary and multibacillary, which differ in the number of bacteria present. [3] A person with paucibacillary disease has five or fewer poorly pigmented numb skin patches while a person with multibacillary disease has more than five skin patches. [3] The diagnosis is confirmed by finding acid-fast bacilli in a biopsy of the skin. [3] Leprosy is curable with multidrug therapy. [4] Treatment of paucibacillary leprosy is with the medications dapsone , rifampicin , and clofazimine for six months. [10] Treatment for multibacillary leprosy uses the same medications for 12 months. [10] A number of other antibiotics may also be used. [3] These treatments are provided free of charge by the World Health Organization . [4] People with leprosy can live with their families and go to school and work. [12] In 2018, there were 209,000 leprosy cases globally, down from 5.2 million in the 1980s. [7] [13] [14] The number of new cases in 2016 was 216,000. [4] Most new cases occur in 14 countries, with India accounting for more than half. [3] [4] In the 20 years from 1994 to 2014, 16 million people worldwide were cured of leprosy. [4] About 200 cases per year are reported in the United States. [15] Leprosy has affected humanity for thousands of years. [3] The disease takes its name from the Greek word λέπρᾱ ( léprā ), from λεπῐ́ς ( lepís ; "scale"), while the term "Hansen's disease" is named after the Norwegian physician Gerhard Armauer Hansen . [3] Leprosy has historically been associated with social stigma , which continues to be a barrier to self-reporting and early treatment. [4] Separating people affected by leprosy by placing them in leper colonies still occurs in some areas of India, [16] China, [17] Africa, [18] and Thailand. [19] Most colonies have closed, as leprosy is not very contagious. [18] Some consider the word "leper" offensive, preferring the phrase "person affected with leprosy". [20] Leprosy is classified as a neglected tropical disease . [21] World Leprosy Day was started in 1954 to draw awareness to those affected by leprosy. [22] Contents 1 Signs and symptoms 2 Cause 2.1 M. leprae and M. lepromatosis 2.2 Risk factors 2.3 Transmission 2.4 Genetics 3 Mechanism 4 Diagnosis 4.1 Classification 5 Prevention 6 Treatment 6.1 Anti-leprosy medication 6.2 Skin changes 7 Epidemiology 7.1 Disease burden 8 History 9 Society and culture 9.1 India 9.2 Treatment cost 9.3 Historical texts 9.4 Middle Ages 9.5 19th century 9.5.1 Norway 9.5.2 Colonialism and imperialism 9.6 Stigma 9.7 Programs and treatment 10 Notable cases 11 Coverage in the media 12 Other animals 13 See also 14 References 15 Further reading 16 External links Signs and symptoms [ edit ] Common symptoms present in the different types of leprosy include a runny nose; dry scalp; eye problems; skin lesions; muscle weakness; reddish skin; smooth, shiny, diffuse thickening of facial skin, ear, and hand; loss of sensation in fingers and toes; thickening of peripheral nerves; a flat nose due to destruction of nasal cartilage; and changes in phonation and other aspects of speech production. [23] [24] In addition, atrophy of the testes and impotence may occur. [25] Leprosy can affect people in different ways. [10] The average incubation period is 5 years. [4] People may begin to notice symptoms within the first year or up to 20 years after infection. [4] The first noticeable sign of leprosy is often the development of pale or pink coloured patches of skin that may be insensitive to temperature or pain. [26] Patches of discolored skin are sometimes accompanied or preceded by nerve problems including numbness or tenderness in the hands or feet. [26] [27] Secondary infections (additional bacterial or viral infections) can result in tissue loss, causing fingers and toes to become shortened and deformed, as cartilage is absorbed into the body. [28] [29] A person's immune response differs depending on the form of leprosy. [30] Approximately 30% of people affected with leprosy experience nerve damage. [31] The nerve damage sustained is reversible when treated early, but becomes permanent when appropriate treatment is delayed by several months. Damage to nerves may cause loss of muscle function, leading to paralysis. It may also lead to sensation abnormalities or numbness , which may lead to additional infections, ulcerations, and joint deformities. [31] Paucibacillary leprosy (PB): Pale skin patch with loss of sensation Skin lesions on the thigh of a person with leprosy Hands deformed by leprosy Cause [ edit ] M. leprae and M. lepromatosis [ edit ] Main articles: Mycobacterium leprae and Mycobacterium lepromatosis M. leprae , one of the causative agents of leprosy: As an acid-fast bacterium, M. leprae appears red when a Ziehl-Neelsen stain is used. M. leprae and M. lepromatosis are the mycobacteria that cause leprosy. [31] M. lepromatosis is a relatively newly identified mycobacterium isolated from a fatal case of diffuse lepromatous leprosy in 2008. [5] [32] M. lepromatosis is indistinguishable clinically from M. leprae . [33] M. leprae is an intracellular, acid-fast bacterium that is aerobic and rod-shaped. [34] M. leprae is surrounded by the waxy cell envelope coating characteristic of the genus Mycobacterium . [34] Genetically, M. leprae and M. lepromatosis lack the genes that are necessary for independent growth. [35] M. leprae and M. lepromatosis are obligate intracellular pathogens , and can not be grown ( cultured ) in the laboratory. [35] The inability to culture M. leprae and M. lepromatosis has resulted in a difficulty definitively identifying the bacterial organism under a strict interpretation of Koch's postulates . [5] [35] While the causative organisms have to date been impossible to culture in vitro , it has been possible to grow them in animals such as mice and armadillos . [36] [37] Naturally occurring infection has been reported in nonhuman primates (including the African chimpanzee , the sooty mangabey , and the cynomolgus macaque), armadillos, [38] and red squirrels . [39] Multilocus sequence typing of the armadillo M. leprae strains suggests that they were of human origin for at most a few hundred years. [40] Thus, it is suspected that armadillos first acquired the organism incidentally from early American explorers. [41] This incidental transmission was sustained in the armadillo population, and it may be transmitted back to humans, making leprosy a zoonotic disease (spread between humans and animals). [41] Red squirrels ( Sciurus vulgaris ) , a threatened species in Great Britain , were found to carry leprosy in November 2016. [42] It has been suggested that the trade in red squirrel fur, highly prized in the medieval period and intensively traded, may have been responsible for the leprosy epidemic in medieval Europe. [43] A pre-Norman-era skull excavated in Hoxne, Suffolk , in 2017 was found to carry DNA from a strain of Mycobacterium leprae, which closely matched the strain carried by modern red squirrels on Brownsea Island , UK. [43] [44] Risk factors [ edit ] The greatest risk factor for developing leprosy is contact with another person infected by leprosy. [4] People who are exposed to a person who has leprosy are 5–8 times more likely to develop leprosy than members of the general population. [6] Leprosy also occurs more commonly among those living in poverty. [3] Not all people who are infected with M. leprae develop symptoms. [45] [46] Conditions that reduce immune function, such as malnutrition, other illnesses, or genetic mutations, may increase the risk of developing leprosy. [6] Infection with HIV does not appear to increase the risk of developing leprosy. [47] Certain genetic factors in the person exposed have been associated with developing lepromatous or tuberculoid leprosy. [48] Transmission [ edit ] Transmission of leprosy occurs during close contact with those who are infected. [4] Transmission of leprosy is not well understood, but the upper respiratory tract is thought to be the most likely entry route. [10] [49] Older research suggested the skin as the main route of transmission, but recent research has increasingly favored the respiratory route. [50] Leprosy is not sexually transmitted and is not spread through pregnancy to the unborn child. [4] [9] The majority (95%) of people who are exposed to M.

Hansen's disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes . After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions ; muscle weakness or paralysis; eye problems that may lead to blindness; nosebleeds; severe pain; and/or numbness in the hands, feet, arms and legs. Hansen's disease is caused by the bacterium Mycobacterium leprae; however, the way in which the bacterium is transmitted (spread) is poorly understood. It appears that only about 5% of people are susceptible to the condition.