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  • Guanidinoacetate Methyltransferase Deficiency Wikipedia
    Amino Acids . 40 (5): 1315–1324. doi : 10.1007/s00726-011-0852-z . ISSN 0939-4451 . PMID 21390529 .
    GAMT, GATM, SLC6A8
    • Guanidinoacetate Methyltransferase Deficiency GARD
      Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited disease that affects the brain and muscles. People with this disease may begin showing symptoms from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, recurrent seizures (epilepsy), problems with speech, and involuntary movements. People with this disease may also have behavioral problems, including hyperactivity, autistic behaviors , and self-mutilation. GAMT deficiency is caused by changes (mutations) in the GAMT gene. The disease is inherited in an autosomal recessive manner.
    • Guanidinoacetate Methyltransferase Deficiency Orphanet
      Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations. Epidemiology Less than 100 patients are known worldwide. Clinical description Onset of manifestations of GAMT deficiency occurs between 3 months and 3 years of age. Affected individuals have mild to severe intellectual disability with a distinctive deficit in expressive language, regardless of the degree of the intellectual deficit. Seizures, of different types, are observed in most individuals and are often intractable. Behavioral disorders such as hyperactivity and autistic features are also frequent.
    • Cerebral Creatine Deficiency Syndrome 2 OMIM
      A number sign (#) is used with this entry because cerebral creatine deficiency syndrome-2 (CCDS2), also known as guanidinoacetate methyltransferase (GAMT) deficiency, is caused by homozygous or compound heterozygous mutation in the GAMT gene (601240) on chromosome 19p13. Description Guanidinoacetate methyltransferase deficiency, an autosomal recessive inborn error of creatine synthesis, is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids (summary by Schulze, 2003). For a general phenotypic description and a discussion of genetic heterogeneity of CCDS, see CCDS1 (300352). Clinical Features Stockler et al. (1994) reported a 22-month-old male infant with muscular hypotonia, progressive extrapyramidal movement disorder, an extremely low excretion of creatine, deficiency of creatine and creatine phosphate, and simultaneous accumulation of guanidinoacetate in brain, as detected by in vivo proton and phosphorus magnetic resonance spectroscopy. The clinical symptoms and biochemical abnormalities improved significantly after oral administration of creatine monohydrate.
    • Guanidinoacetate Methyltransferase Deficiency MedlinePlus
      Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). Affected individuals may also exhibit autistic behaviors that affect communication and social interaction or self-injurious behaviors such as head-banging. Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics.
  • Blue Toe Syndrome Wikipedia
    PMID 19103358 . ^ Blackshear JL, Oldenburg WA, Cohen MD (Dec 1994). "Making the diagnosis when the patient has 'blue toes ' ". ... PMID 22477301 . ^ Blackshear JL, Oldenburg WA, Cohen MD (Dec 1994). "Making the diagnosis when the patient has 'blue toes ' ". ... PMID 7982584 . ^ Blackshear JL, Oldenburg WA, Cohen MD (Dec 1994). "Making the diagnosis when the patient has 'blue toes ' ". ... PMID 7982584 . ^ Blackshear JL, Oldenburg WA, Cohen MD (Dec 1994). "Making the diagnosis when the patient has 'blue toes ' ".
  • Hiv/aids In New York City Wikipedia
    Evidence from effective needle exchange programs in European cities caused a shift in public opinion, and in 1988, New York City Health Commissioner Dr. ... AIDS Diagnosis and Persons Living with HIV/AIDS by Year, Pre-1981 to 2014, New York City" (PDF) . New York City HIV/AIDS Annual Surveillance Statistics 2014 . New York City Department of Health and Mental Hygiene (DOHMH) . ... Ed Koch and the Rebuilding of New York City . New York: Columbia University Press. ... Hives of Sickness: Public Health and Epidemics in New York City . New Brunswick, N.J.: Museum of the City of New York, Rutgers University Press.
  • Kifafa Seizure Disorder OMIM
    Jilek-Aall et al. (1979) studied a seizure disorder called kifafa in an isolated tribe in the interior of Tanzania. About 200 cases were found among 10,000 persons.
  • Foix-Alajouanine Syndrome Orphanet
    Diagnostic methods Radiological investigations and magnetic resonance imaging (MRI) of the spinal cord reveal dilated perimedullary veins associated with a hypersignal from the interior of the cord and, in chronic forms, variable degrees of spinal cord atrophy.
    ACVRL1, ENG
  • Onyalai Wikipedia
    Heart shows haemorrhages throughout, particularly in the right atrium, which has been opened to reveal its interior surface. Specialty Hematology Onyalai (Pronunciation: ō′nē-al′ā-ē) is a form of thrombocytopenia that affects some of the population in areas of central Africa . [1] Onyalai exhibits similarities to idiopathic thrombocytopenic purpura (ITP) but differs in pathogenesis .
  • Pinealoblastoma Wikipedia
    American Journal of Neuroradiology . 16 (1): 157–65. PMID 7900586 . ^ de Jong MC, Kors WA, de Graaf P, Castelijns JA, Moll AC, Kivelä T (December 2015). ... PMID 10561222 . ^ de Jong MC, Kors WA, de Graaf P, Castelijns JA, Kivelä T, Moll AC (September 2014).
    DICER1, ASMT, MYC, PDE4DIP, NIBAN1, CRB3, NEUROD4, PCDHGA3, DROSHA, PHOX2B, CRX, TPH1, SMARCB1, RB1, MYCN, CD99, INSM1, DICER1-AS1
    • Pineoblastoma Orphanet
      Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.
    • Pineoblastoma GARD
      Pineoblastoma is a type of cancerous ( malignant ) tumor that grows in a part of the brain known as the pineal gland . It occurs mainly in children. Symptoms of pineoblastoma include a buildup of fluid around the brain (hydrocephalus), headaches, nausea, and difficulty with eye movement. Without treatment, pineoblastomas can cause weakness and difficulty controlling movement. The long term outcome depends on the age at diagnosis, the size of the tumor, and if the tumor has spread outside the brain ( metastasized ). The cause of pineoblastoma is unknown, but specific inherited genetic variants in two genes, RB1 and DICER1 can increase the risk for a pineoblastoma.
  • Hiv/aids In Yunnan Wikipedia
    Officials estimate that the province has 80,000 infected people, most of them intravenous drug users who have spread the disease by sharing needles. In Gejiu , a city of 310,000 people on a route favored by drug traffickers, initial rounds of AIDS testing in recent years found more than 1,000 people with HIV, nearly all drug users or prostitutes. ... Zhonghua Liu Xing Bing Xue Za Zhi 1990; 11:184–85 (in Chinese). ^ Chinese City Emerges As Model in AIDS Fight (June 16) by JIM YARDLEY. ... Lancet 2006; 367: 803–04 External links [ edit ] Yunnan Red Cross - Official Website Development Work and Voluntarism in China v t e County-level divisions of Yunnan Province Kunming ( capital ) Prefecture-level cities Kunming Panlong District Wuhua District Guandu District Xishan District Chenggong District Dongchuan District Jinning District Anning city Fumin County Yiliang County Songming County Shilin County Luquan County Xundian County Qujing Qilin District Zhanyi District Malong District Xuanwei city Fuyuan County Luoping County Shizong County Luliang County Huize County Yuxi Hongta District Jiangchuan District Chengjiang city Tonghai County Huaning County Yimen County Eshan County Xinping County Yuanjiang County Baoshan Longyang District Tengchong city Shidian County Longling County Changning County Zhaotong Zhaoyang District Shuifu city Ludian County Qiaojia County Yanjin County Daguan County Yongshan County Suijiang County Zhenxiong County Yiliang County Weixin County Lijiang Gucheng District Yongsheng County Huaping County Yulong County Ninglang County Pu'er Simao District Ning'er County Mojiang County Jingdong County Jinggu County Zhenyuan County Jiangcheng County Menglian County Lancang County Ximeng County Lincang Linxiang District Fengqing County Yun County Yongde County Zhenkang County Shuangjiang County Gengma County Cangyuan County Autonomous prefectures Chuxiong Chuxiong city Shuangbai County Mouding County Nanhua County Yao'an County Dayao County Yongren County Yuanmou County Wuding County Lufeng County Honghe Mengzi city Gejiu city Kaiyuan city Mile city Lüchun County Jianshui County Shiping County Luxi County Yuanyang County Honghe County Jinping County Hekou County Pingbian County Wenshan Wenshan city Yanshan County Xichou County Malipo County Maguan County Qiubei County Guangnan County Funing County Xishuangbanna Jinghong City Menghai County Mengla County Dali Dali city Xiangyun County Binchuan County Midu County Yongping County Yunlong County Eryuan County Jianchuan County Heqing County Yangbi County Nanjian County Weishan County Dehong Mangshi city Ruili city Lianghe County Yingjiang County Longchuan County Nujiang Lushui city Fugong County Gongshan County Lanping County Diqing Shangri-La city Dêqên County Weixi County v t e Sexuality and gender in China Topics Women In ancient China Globalization and women in China Women's healthcare Feminism Prostitution All-China Women's Federation Marriage and family Marriage in modern China Traditional Chinese marriage New Marriage Law Naked marriage Ghost marriage Polyandry in Tibet Chinese-foreign marriages One-child policy Queer people Rights Hong Kong Macau History LGBT culture in Shanghai LGBT culture in Hong Kong Homosexuality same-sex unions Transgender Intersex
  • Cyclaneusma Needle Cast Wikipedia
    Cyclaneusma has been seen on ponderosa pines in North Dakota and Nebraska. [1] During early autumn, needles within the interior of the infected tree begin to develop yellow spots. ... Because the infected needles are within the interior of the tree, the newer needles on the outer surface of the pines are flushed green and resistant to the disease. However, the premature shedding of needles in the interior can extend outwards leading to a loss in overall growth.
  • Abortion In New York Wikipedia
    She had branches in several other cities including Boston and Philadelphia, as well as employed traveling agents working for the company who sold her "Female Monthly Pills." [2] [3] Despite making a fortune from her business, her activities scandalized New York City society. [4] New York state saw a number of women dying during the 1860s and 1870s as a result of using unskilled abortionists. ... Over half of them traveled more than 500 miles to get a legal abortion in the state. [4] In 1990, 2,443,000 women in the state had a reported unintended pregnancy. [30] The highest number of legal induced abortions by state in 2000 occurred in New York City with 94,466, while Florida was second with 88,563, and Texas was third with 76,121. [38] In 2001, New York City had the highest number of induced abortions with 91,792, while Florida was second with 85,589, and Texas was third with 77,409. Idaho had the lowest induced abortion to live birth ratio at 36 per 1,000 live births while New York City had the highest at 767. [39] In 2003, the state of New York had the highest number of legal induced abortions with 90,820. ... Rate^ Ratio^^ New York 1992 -- -- -- 164,274 39 582 3.2 [48] New York City 1992 -- -- -- 114,700 -- 909 2.8 [48] New York State 1992 -- -- -- 49,574 -- 318 4.1 [48] New York 1995 -- -- -- 139,686 34 525 -- [49] New York CIty 1995 -- -- -- 95,205 -- 785 4.8 [49] New York State 1995 -- -- -- 44,481 -- 307 5.1 [49] New York 1996 -- -- -- 152,991 37 580 -- [50] New York City 1996 -- -- -- 109,331 -- 889 6.1 [50] New York State 1996 -- -- -- 43,660 -- 310 4.9 [50] New York 2014 93,984 23.2 264 96,711 23.9 271 3.3 [51] New York City 2014 -- -- -- 67,620 34.8 575 7.9 [51] New York State 2014 -- -- -- 29,091 13.8 122 5.2 [51] New York 2015 88,762 22 374 93,096 23.1 392 5.1 [52] New York City 2015 -- -- -- 63,646 32.8 544 -- [52] New York State 2015 -- -- -- 29,450 14.1 245 -- [52] New York 2016 82,841 20.7 354 87,325 21.8 373 5.6 [53] New York City 2016 -- -- -- 59,854 31.1 519 -- [53] New York State 2016 -- -- -- 27,471 13.2 213 -- [53] ^number of abortions per 1,000 women aged 15-44; ^^number of abortions per 1,000 live births Abortion financing [ edit ] State Medicaid coverage of medically necessary abortion services. ... They quietly referred her to a clinic in New York City, and Mason then called to make an appointment where she was told the procedure would cost around US$150.
  • Hiv/aids In Mexico Wikipedia
    Though the overall infection prevalence is relatively low nationwide, the prevalence of HIV in border cities is disproportionately higher. Border cities, such as Tijuana and Ciudad Juarez are major sites of drug trafficking, sex trafficking, and commercial sex work and tourism. ... In general, there are large concentrations of high-risk populations moving to and from the border cities of Mexico and the United States. ... When the two infect the body together, oftentimes the infections will exacerbate each other, making treatment more complicated. Border Cities [ edit ] Commercial Sex Workers [ edit ] According to studies, the prevalence of HIV among female sex workers (FSWs) in Mexican border cities has increased within the last decade. ... Much of the cities, economy is an informal one, made up of different groups, all contributing to the drug trade. ... As a result of this informal economy dominating the cities and corrupting municipal processes, rates of intravenous drug usage is atypically high.
  • Botellón Wikipedia
    Also, loud music contributes to the amount of noise, which is one reason why participants have begun moving to less populated areas in cities. [8] Vandalism : The intoxicated participants of a botellón may potentially leave trash or vandalize a public area and because botellón occurs in public spaces, the city's cleaning crews have to clean it up, which can cause frustration and anxiety with non-participants. ... An early example is Alicante, a southern province, that was the first to propose the idea of botellódromo and established a 4,000 sq. m. outdoor area located on a pier in the city of Alicante. The idea was to please both residents and participants by preventing the youth from occupying other parts of the city while also providing an area for botellón. ... The other purpose was to surpass the 5,000 people that had met in Sevilla on 16 February 2006. [ citation needed ] The City of Madrid did not officially support the event. "Madrid's City hall will not consent to the 'Macro-botellón' planned in Moncloa ". [15] See also [ edit ] Look up botellón in Wiktionary, the free dictionary. ... Retrieved March 16, 2010 . ^ "End of the botellón-Town Hall prohibits youths drinking alcohol on the streets of Malaga City" . EuroWeeklyNews.com . July 3, 2009 .
  • Visual Impairment And Progressive Phthisis Bulbi OMIM
    Ultrasonography in patient V:3 showed a thickened posterior wall, vitreous opacity, and small interior-posterior chamber with a 14-mm axial diameter (normal diameter, 24 mm); no posterior eye wall was detected in patient V:2.
    MARK3
  • Hiv/aids In Namibia Wikipedia
    Namibia: State of the Nation’s Health: Findings from the Global Burden of Disease. Seattle, WA: IHME, 2016. ^ a b c d e f Ministry of Health and Social Services. (2015). ... Namibia: State of the Nation’s Health: Findings from the Global Burden of Disease. Seattle, WA: IHME, 2016. ^ Ministry of Health and Social Services, Directorate of Special Programmes, Results of the 2008 HIV Sentinel Survey, 2008 ^ http://www.pepfar.gov/countries namibia/index.htm "2008 Country Profile: Namibia". ... Final Report 2009 v t e HIV/AIDS in Africa Sovereign states Algeria Angola Benin Botswana Burkina Faso Burundi Cameroon Cape Verde (Cabo Verde) Central African Republic Chad Comoros Democratic Republic of the Congo Republic of the Congo Djibouti Egypt Equatorial Guinea Eritrea Eswatini (Swaziland) Ethiopia Gabon The Gambia Ghana Guinea Guinea-Bissau Ivory Coast (Côte d'Ivoire) Kenya Lesotho Liberia Libya Madagascar Malawi Mali Mauritania Mauritius Morocco Mozambique Namibia Niger Nigeria Rwanda São Tomé and Príncipe Senegal Seychelles Sierra Leone Somalia South Africa South Sudan Sudan Tanzania Togo Tunisia Uganda Zambia Zimbabwe States with limited recognition Sahrawi Arab Democratic Republic Somaliland Dependencies and other territories Canary Islands / Ceuta / Melilla (Spain) Madeira (Portugal) Mayotte / Réunion (France) Saint Helena / Ascension Island / Tristan da Cunha (United Kingdom) v t e HIV / AIDS topics HIV/AIDS HIV HIV Lentivirus structure and genome subtypes CDC classification disease progression rates HIV/AIDS diagnosis management pathophysiology prevention research vaccination PrEP WHO disease staging system for HIV infection and disease Children Teens / Adults Countries by AIDS prevalence rate Conditions Signs and symptoms AIDS-defining clinical condition Diffuse infiltrative lymphocytosis syndrome Lipodystrophy Nephropathy Neurocognitive disorders Pruritus Superinfection Tuberculosis co-infection HIV Drug Resistance Database Innate resistance to HIV Serostatus HIV-positive people Nutrition Pregnancy History History Epidemiology Multiple sex partners Timeline AIDS Museum Timothy Ray Brown Women and HIV/AIDS Social AIDS orphan Catholic Church and HIV/AIDS Circumcision and HIV Criminal transmission Discrimination against people Economic impact Cost of treatment HIV-affected community HIV/AIDS activism HIV/AIDS denialism Red ribbon Safe sex Sex education List of HIV-positive people People With AIDS Self-Empowerment Movement HIV/AIDS in the porn industry Culture Discredited HIV/AIDS origins theories International AIDS Conference International AIDS Society Joint United Nations Programme on HIV/AIDS (UNAIDS) Media portrayal of HIV/AIDS Misconceptions about HIV/AIDS President's Emergency Plan for AIDS Relief (PEPFAR) The SING Campaign Solidays Treatment Action Campaign World AIDS Day YAA/Youthforce "Free Me" Larry Kramer Gay Men's Health Crisis ACT UP Silence=Death Project HIV/AIDS pandemic by region / country Africa Angola Benin Botswana Democratic Republic of the Congo Egypt Eswatini Ethiopia Ghana Guinea Côte d'Ivoire (Ivory Coast) Kenya Lesotho Madagascar Malawi Mali Mozambique Namibia Niger Nigeria Rwanda Senegal Tanzania South Africa Uganda Zambia Zimbabwe North America Canada Mexico El Salvador Guatemala Honduras Nicaragua United States New York City Caribbean Haiti Jamaica Dominican Republic South America Bolivia Brazil Colombia Guyana Peru Asia Afghanistan Armenia Azerbaijan Bahrain Bangladesh Bhutan Cambodia China (PRC) ( Yunnan ) East Timor India Indonesia Iran Iraq Japan Jordan North Korea Laos Malaysia Myanmar (Burma) Nepal Pakistan Philippines Saudi Arabia Sri Lanka Taiwan (ROC) Thailand United Arab Emirates Turkey Vietnam Europe United Kingdom Russia Ukraine Oceania Australia New Zealand Papua New Guinea List of countries by HIV/AIDS adult prevalence rate List of HIV/AIDS cases and deaths registered by region
  • Heck's Disease Wikipedia
    Annali di Stomatologia . 4 (Suppl 2): 43. ISSN 1824-0852 . PMC 3860189 . PMID 24353818 . ^ James, William D.; Berger, Timothy G.; et al. (2006).
    BCL2, HLA-DRB1, RBM45
    • Focal Epithelial Hyperplasia, Oral OMIM
      Description Focal epithelial hyperplasia is a benign hyperplasia of the oral mucosa induced by human papillomavirus (HPV) (Premoli-De-Percoco et al., 1993). Clinical Features Premoli-De-Percoco et al. (1993) demonstrated a familial aggregation of oral FEH in a Venezuelan family. DNA sequences of HPV were demonstrated in the affected individuals. HPV13 and HPV32 have been demonstrated as etiologic agents; HPV13 was demonstrated in this kindred. (See 226400 and 305350 for possible examples of skin disorders (epidermodysplasia verruciformis) due to genetic susceptibility to HPV.) In 2 of 4 sibs born of Mexican-American parents of Navajo and Comanche Native American lineage, Mealey et al. (1993) described FEH in association with leukocyte adhesion deficiency (116920).
  • Jerusalem Syndrome Wikipedia
    This refers to individuals already diagnosed as having a psychotic illness before their visit to Jerusalem. They have typically gone to the city because of the influence of religious ideas, often with a goal or mission in mind that they believe needs to be completed on arrival or during their stay. ... Kalian and Witztum note that as a proportion of the total numbers of tourists visiting the city, this is not significantly different from any other city. [2] [8] In popular culture [ edit ] In The X-Files (Season 3 Episode 11 'Revelations") (Release Year 1995), the perpetrator is depicted as having "Jerusalem Syndrome" after a visit to Jerusalem. ... Abstract ^ Elon, Amos. Jerusalem, City of Mirrors . Little, Brown, 1989, p. 147. ... In: Kedar, Z.B.; Werblowsky, R.J., Eds.: Sacred Space: Shrine, City, Land . MacMillan and The Israel Academy of Sciences and Humanities, 1998. ... Kalian M., Witztum E., "The Management of Pilgrims with Malevolent Behaviour in a Holy Space: A Study of Jerusalem Syndrome" in Lappkari M., Griffin K., Eds. "Pilgrimage and Tourism to Holy Cities, Ideological and Management Perspectives" CABI International, 2016, 100–113.
  • Yokkaichi Asthma Wikipedia
    This settlement did nothing about the source of pollution. [4] In August 1960, The Yokkaichi City Environmental Pollution Control Measures Committee was organized by the city of Yokkaichi prompted by farther citizen complaints. ... The 1968 Air Pollution Control Law led to the implementation of a flue-gas desulfurization processes for all emissions, which gradually led to health improvement in the local populace. [3] Other cases [ edit ] Yokkaichi asthma has been identified in other rapidly industrializing areas in parts of the world, including Mexico City , Singapore , and cities in mainland China like Guangzhou where air pollution caused by smog can lead to chronic asthma. [14] [15] Sulfur oxides have also been attributed to causing other Japanese city asthma outbreaks, such as in the Nishiyodogawa industrial district of Osaka , Japan. [16] References [ edit ] ^ a b Yokkaichi Asthma . ... University of Hawaii Press. ^ a b c d e f g h i j k l "Approaches to Air pollution Control (Case Study-1) Yokkaichi City, Mie prefecture" . International Center for Environmental Technology Transfer . ... "Characteristics in the growth and grain production of rice plant in air pollution area (Yokkaichi City), and the significance as the indicator plant for monitoring of air pollution". ... Retrieved 1 April 2010 . ^ "Mexico City's dirty truth" . BBC. 11 February 2002 .
  • Fugue State Wikipedia
    Dissociative disorder For the New York City-based publisher, see Fugue State Press . ... Retrieved 2011-11-28 . ^ a b Merck Manual 1999 section 15 (Psychiatric Disorders), chapter 188 (Dissociative Disorders) ^ "Experts say that Roberts may indeed have amnesia | Juneau Empire - Alaska's Capital City Online Newspaper" . Juneau Empire. 1997-07-17. ... The New York Times . 2009-03-01. ^ "Missing New York City School Teacher Spotted in Apple Store" .
  • Viet And Duc Nguyen Wikipedia
    On October 4, 1988, Viet and Duc were separated in the hospital in Ho Chi Minh City with the help of the Japanese Red Cross after Viet went into a coma . [1] Duc first entered junior high school , then dropped out and learned computer programming in a school. Now, he works at a hospital in Ho Chi Minh City . On December 16, 2006, he married Nguyen Thanh Tuyen in Ho Chi Minh City. [2] Viet's health problems continued after the separation, and he died due to liver failure and pneumonia on October 6, 2007, at the age of 26.
  • Epidermodysplasia Verruciformis Wikipedia
    He was offered to have more tests run to determine whether it is treatable, and the doctor was fairly optimistic, but he refused the treatment. [ citation needed ] According to The Jakarta Post , Koswara underwent the first of a series of new surgical procedures to remove the regrown warts in the spring of 2011. ... Fitzpatrick's Dermatology in General Medicine (6th ed.). New York City : McGraw-Hill . pp. 2119–2131. ISBN 978-0-07-138076-8 . ^ Pereira de Oliveira WR, Carrasco S, Neto CF, Rady P, Tyring SK (March 2003).
    TMC6, TMC8, RHOH, IL7, CIB1, TP53, SLC30A1, STT3A, IGFALS, SOD1, CDKN2A, H3P10, SETD3, MIR25, UVRAG, LINC02605, VEGFA, CLEC4C, MIR214, SLC30A2, TP63, PDLIM7, RASGRP1, CKAP4, TEX11, CORO1A, NLRP3, FOXK1, SDCBP2, PYCARD, UBE2B, CD274, SLC39A13, SLC39A4, MIR210, ANGPT1, TTN, TNF, STS, CD36, CCR7, CRP, DYRK1A, ECM1, ERBB2, FCGR3A, FCGR3B, FLG, MTOR, GH1, IL2, IL10, ITK, IVL, LCK, MAS1, PPARG, PTEN, PTGS2, RMRP, RPE65, SCD, SREBF1, TM7SF2
    • Epidermodysplasia Verruciformis, Susceptibility To, 3 OMIM
      A number sign (#) is used with this entry because of evidence that susceptibility to epidermodysplasia verruciformis-3 (EV3) is conferred by homozygous mutation in the CIB1 gene (602293) on chromosome 15q26. Description Epidermodysplasia verruciformis-3 is characterized by onset in childhood or early adulthood of persistent disseminated flat warts and pityriasis versicolor-like lesions of the skin that are induced by cutaneous human papillomaviruses (HPVs) of the beta genus. Some patients develop nonmelanoma skin cancer, particularly on areas of the body exposed to the sun. Patients are otherwise healthy and normally resistant to other microorganisms, including other viruses and skintropic pathogens, and even all other cutaneous and mucosal HPVs (de Jong et al., 2018). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400).
    • Epidermodysplasia Verruciformis Orphanet
      Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. Epidemiology The exact prevalence of EV is unknown; more than 200 cases have been reported in the literature so far. Clinical description The disease usually manifests during infancy (7.5% of cases), childhood (61.5% of cases) or puberty (22% of cases) with a progressive development of hyperpigmented or hypopigmented flat wart-like papules, irregular reddish brown plaques, seborrheic keratosis-like lesions and pityriasis versicolor-like macules on the trunk, neck, face, dorsal hands and feet (sun-exposed skin). Various HPV subtypes (HPV5 and HPV8 are found in 80% of cases) can be detected in the cutaneous lesions. Thirty to 60% of patients develop non-melanoma skin cancers, especially squamous cell carcinomas (SCC), during the fourth or fifth decades of life, mainly on sun-exposed areas.
    • Epidermodysplasia Verruciformis, Susceptibility To, 2 OMIM
      A number sign (#) is used with this entry because of evidence that susceptibility to epidermodysplasia verruciformis-2 (EV2) is conferred by homozygous mutation in the TMC8 gene (605829) gene on chromosome 17q25. Description Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas (summary by Ramoz et al., 2000).
    • Epidermodysplasia Verruciformis, Susceptibility To, 1 OMIM
      A number sign (#) is used with this entry because of evidence that susceptibility to epidermodysplasia verruciformis-1 (EV1) is conferred by homozygous or compound heterozygous mutation in the TMC6 gene (605828) on chromosome 17q25. Description Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas (summary by Ramoz et al., 2000).
    • Epidermodysplasia Verruciformis, X-Linked OMIM
      Androphy et al. (1985) described a kindred in which a 56-year-old man had EDV, none of his 5 sons or 5 daughters had EDV, and 4 of his grandsons (through 2 daughters) had EDV. All were infected with human papillomavirus 3 (HPV 3) and with HPV 8. The proband, who had onset of warts at age 5 years with no regression over the next 50 years and with extension to cover about 10% of his skin surface, had squamous carcinoma arising on sun-exposed areas of the face, ears, neck, back, arms, and hands over the previous 25 years. Other pedigrees have suggested autosomal inheritance although whether dominant as suggested by some families or recessive as suggested by parental consanguinity (see 226400) is not certain. Inheritance - X-linked form Skin - Epidermodysplasia verruciformis - Human papillomavirus (HPV 3 and HPV 8) infection - Warts - Squamous skin carcinoma ▲ Close
    • Epidermodysplasia Verruciformis, Susceptibility To, 5 OMIM
      A number sign (#) is used with this entry because of evidence that susceptibility to epidermodysplasia verruciformis-5 (EV5) is conferred by homozygous mutation in the IL7 gene (146660) on chromosome 8q21. One such family has been reported. Description Epidermodysplasia verruciformis-5 is an autosomal recessive immunologic disorder characterized by onset of warts and verrucous or plaque-like skin lesions associated with HPV infection. Immunologic workup shows T-cell lymphopenia, particularly affecting CD4+ T cells. There is an increased risk of skin malignancy, and some patients may have other symptoms of immune dysfunction (summary by Horev et al., 2015). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400).
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