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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.
. ^ Matsumoto T, Kuwabara N, Abe H, Fukuda Y, Suyama M, Fujii D, Kojima K, Futagawa S (1992), "Zahn infarct of the liver resulting from occlusive phlebitis in portal vein radicles", American Journal of Gastroenterology , 87 (3): 365–368, PMID 1539574 Reichelt HG (1985), "Partial Budd-Chiari syndrome with Zahn infarct of the liver in venous transmitted tumor thrombosis of a uterine cancer", Röntgen-Blätter (in German), 38 (11): 345–347, PMID 4081553 v t e Ischaemia and infarction Ischemia Location Brain ischemia Heart Large intestine Small intestine Infarction Types Anemic Hemorrhagic Location Heart Brain Spleen Limb Gangrene This article related to pathology is a stub . You can help Wikipedia by expanding it . v t e This article about a disease , disorder, or medical condition is a stub . You can help Wikipedia by expanding it . v t e
"A homozygous mutation in LTBP2 causes isolated microspherophakia". Human Genetics . 128 (4): 365–371. doi : 10.1007/s00439-010-0858-8 . ... You can help Wikipedia by expanding it . v t e This article about an ophthalmic disease is a stub . You can help Wikipedia by expanding it . v t e
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 the process of secretion, preprochymosin, comprising 381 amino acids, is processed by the signal peptidase into an inactive 365-amino acid prochymosin. At low pH, prochymosin undergoes autocatalytic cleavage of 42 N-terminal amino acids, yielding active chymosin.
Eosinophilic pustular folliculitis (EPF) affects the skin causing itchy, red or skin-colored bumps and pustules (bumps containing pus). The papules mostly appear on the face, scalp, neck and trunk and may last for weeks or months. EPF affects males more than females. There are several forms of EPF. Classic eosinophilic pustular folliculitis mainly occurs in Japan. Immunosuppression-associated EPF is mainly associated with HIV infection, but has also been associated with certain cancers and medications.[16046] The infantile form of EPF is seen in infants from birth or within the first year of life. The underlying cause of EFP is unknown. All of these forms have similar skin findings.
To investigate whether rs1617640 was specifically associated with diabetic microvascular complications rather than with complications of type 2 diabetes per se, the authors replicated the study in 365 patients with type 1 diabetes (222100) with both PDR and ESRD, 500 with nephropathy and retinopathy without progression to PDR and ESRD, and 574 type 1 diabetic control patients without nephropathy or retinopathy, and found that the T allele of rs1617640 was significantly associated (p = 2.66 x 10(-8)) with PDR and ESRD; the results were confirmed in a third cohort involving 379 type 1 diabetics with both PDR and nephropathy and 141 diabetic controls (p = 0.021).
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.
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.
PMID 21973237 . S2CID 40027505 . ^ a b c d e f g h i j k l m n o p q r s t u v w x "Leprosy Fact sheet N°101" . ... PMC 5014252 . PMID 27402522 . ^ a b c d e "Hansen's Disease (Leprosy) Transmission" . cdc.gov . ... August 2012. PMID 22919737 . ^ a b c d e f Rodrigues LC; Lockwood DNj (June 2011). ... Archived from the original on 2017-09-04. ^ a b Buschman E, Skamene E (Jun 2004). "Linkage of leprosy susceptibility to Parkinson's disease genes" (PDF) . ... PMC 3440852 . PMID 22988457 . ^ a b c d e f g "Diagnosis of Leprosy." WHO. from "WHO | Diagnosis of leprosy" .
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.
Journal of the American Academy of Dermatology . 22 (4): 657–663. doi : 10.1016/0190-9622(90)70093-W . PMID 2138638 . ^ Garrod, A. E. (1904). "Concerning Pads upon the Finger Joints and their Clinical Relationships" . ... You can help Wikipedia by expanding it . v t e
A number sign (#) is used with this entry because knuckle pads are associated with certain genetic disorders such as epidermolytis palmoplantar keratoderma (144200) or Dupuytren contractures (126900), both of which are autosomal dominant. Knuckle pads are sometimes associated with Dupuytren contractures and it is not completely certain that a different gene is involved. Camptodactyly (114200) also has an uncertain relationship. Skoog (1948) defined knuckle pads as 'subcutaneous nodules on the dorsal aspect of the proximal interphalangeal joints.' Lu et al. (2003) reported association of knuckle pads with epidermolytic palmoplantar keratoderma in a Chinese family and identified a novel leu160-to-phe mutation in the keratin-9 gene (L160F; 607606.0012) as the presumed cause. They presented evidence that both the hyperkeratosis and the knuckle pads were friction-related.
Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 4 Treatment 5 History 6 References 7 External links Signs and symptoms [ edit ] TEMPI Symptom T Telangiectasias E Elevated Erythropoietin and Erythrocytosis M Monoclonal gammopathy P Perinephric fluid collections I Intrapulmonary shunting The patients were all diagnosed at middle age. ... "TEMPI Syndrome – A Novel Multisystem Disease" . N Engl J Med . 365 (5): 475–477. doi : 10.1056/NEJMc1106670 .
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. Epidemiology Less than 10 cases have been described in the literature. Clinical description TEMPI syndrome manifests in mid-adulthood with the development of telangiectasias mostly on the face, trunk and arms, as well as with erythrocytosis which may cause a red facies and occasionally, headaches. The increased serum erythropoietin levels precede the intrapulmonary shunting. The intrapulmonary shunts cause hypoxia which slowly progresses until the person needs continuous supplemental oxygen.
TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: T elangiectasias , E rythrocytosis with elevated erythropoietin level , M onoclonal gammopathy , P erinephric-fluid collections (fluid around the kidney), and I ntrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation).
"Scrotal Calcinosis". New England Journal of Medicine . 365 (7): 647. doi : 10.1056/NEJMicm1013803 . PMID 21848465 . ^ a b c d e Khallouk A, Yazami OE, Mellas S, Tazi MF, El Fassi J, Farih MH (2011). ... You can help Wikipedia by expanding it . v t e
Stoller, "Erotic Vomiting", Archives of Sexual Behavior 11: 361-365 (1982). See also [ edit ] Paraphilia Philias Bulimia nervosa Emetophobia External links [ edit ] Emetophilia: Roman showers 101 v t e Sexual fetishism Actions, states Aquaphilia Autassassinophilia Coprophilia Cuckold / Cuckquean Emetophilia Erotic hypnosis Erotic lactation Erotic spanking Exhibitionism Forced seduction Gaining and feeding Medical fetishism Omorashi Paraphilic infantilism (adult baby) Pregnancy Smoking Tickling Total enclosure Transvestic Tightlacing Tamakeri Urolagnia Vorarephilia Wet and messy fetishism Body parts Armpit Breast Belly Buttocks Eyeball Fat Feet Hands Height Hair Legs Navels Noses Clothing Boots Ballet boots Boot worship Thigh-high boots Clothing Corset Diapers Gloves Pantyhose Latex Rubber and PVC Shoes Spandex Underwear Uniforms Objects Balloons Dolls Latex and PVC Robots Spandex Controversial / illegal Lust murder Necrophilia Rape fantasy Zoophilia Culture / media Artists Fetish art Fetish clubs Fashion Magazines Models Race Asian sexual fetishism Ethnic pornography Sexual racism Related topics BDSM FetLife International Fetish Day Kink Leather subculture Leather Pride flag Sexual roleplay Book Category v t e Paraphilias List Abasiophilia Acrotomophilia Agalmatophilia Algolagnia Apotemnophilia Autassassinophilia Biastophilia Capnolagnia Chremastistophilia Chronophilia Coprophagia Coprophilia Crurophilia Crush fetish Dacryphilia Dendrophilia Emetophilia Eproctophilia Erotic asphyxiation Erotic hypnosis Erotophonophilia Exhibitionism Formicophilia Frotteurism Gerontophilia Homeovestism Hybristophilia Infantophilia Kleptolagnia Klismaphilia Lactaphilia Macrophilia Masochism Mechanophilia Microphilia Narratophilia Nasophilia Necrophilia Object sexuality Odaxelagnia Olfactophilia Omorashi Paraphilic infantilism Partialism Pedophilia Podophilia Plushophilia Pyrophilia Sadism Salirophilia Scopophilia Somnophilia Sthenolagnia Tamakeri Telephone scatologia Transvestic fetishism Trichophilia Troilism Urolagnia Urophagia Vorarephilia Voyeurism Zoophilia Zoosadism See also Other specified paraphilic disorder Erotic target location error Courtship disorder Polymorphous perversity Sexual fetishism Human sexual activity Perversion Sexology Book Category v t e Outline of BDSM Glossary Index Bondage and discipline B&D or B/D Animal roleplay Bondage hood Bondage positions and methods Bondage suit Collar Equipment Erotic sexual denial Erotic tickling Forced orgasm Head bondage Hogtie bondage Human furniture In culture and media Interrogation scene Japanese bondage Law Metal bondage Mummification Organizations Positions Predicament bondage Rope bondage Self-bondage Sensation play Spreadeagle position Suspension bondage Total enclosure Dominance and submission D&S or D/s Ageplay Bladder desperation Body worship Boot worship Dominatrix Erotic humiliation Facesitting Fear play Female submission Feminization Male dominance Male submission Master/slave Medical fetishism Rape fantasy Forced seduction Servitude Sadomasochism S&M or S/M Breast torture Caning Cock and ball torture Erotic asphyxiation Erotic electrostimulation Erotic spanking Figging Impact play Knife play Play piercing Pussy torture Temperature play Urethral sounding Violet wand Wax play In fiction Related topics Consent Dungeon monitor Edgeplay Edging Feminist views on BDSM Gorean subculture International Fetish Day Kink Leathermen Leather Pride flag Limits Munch Pegging Play Play party Risk-aware consensual kink Safeword Sexual fetishism Sexual roleplay Top, bottom, switch Writers Laura Antoniou Pauline Réage Catherine Robbe-Grillet Leopold von Sacher-Masoch John Norman Commentators and theorists Gloria Brame Patrick Califia Dossie Easton Janet Hardy Trevor Jacques Fakir Musafar Gayle Rubin Organizations FetLife Universities with BDSM clubs Category
., and Watanabe, T. 1966. " Phenazines as Disinfectants Against Bacterial Leaf Blight of the Rice Plant." Applied Microbiology 14(3):365-367. ^ Tisserat, N. "Ascochyta Leaf Blight of Turf" . ... Trees 26:3–12. ^ Rico A, Ortiz-Barredo A, Ritter E, Murillo J. 2004. Genetic characterization of Erwinia amylovora strains by amplified fragment length polymorphism.
Infectious bovine keratoconjunctivitis ( IBK ), also known as pinkeye , New Forest eye or blight , [1] is a veterinary infection of cattle caused by Moraxella bovis , a Gram-negative, β-haemolytic, aerobic , rod-shaped bacterium . It is spread by direct contact or by flies serving as vectors . It is the most common ocular disease of cattle (mostly beef). IBK is similar to human pink eye and causes severe infection of the conjunctiva , edema , corneal opacity , and ulceration . This disease is highly contagious and occurs worldwide. Younger animals are more susceptible, but recovery with minimal damage is usual, if they are treated early. Contents 1 Cause 2 Predisposing factors 3 Clinical signs and diagnosis 4 Treatment and control 5 Vaccination 6 References 7 External links Cause [ edit ] Moraxella bovis is a Gram-negative rod-shaped aerobe .
"Pediatric migraine equivalents: occurrence and clinical features in practice". Pediatric Neurology . 26 (5): 365–8. doi : 10.1016/S0887-8994(01)00416-7 .
