Infobox non profit name Husaini Blood Bank image type Blood bank founded date 1979 founder Dr. Hasan Ali Vajid location Karachi , Sindh , Pakistan coordinates origins key people area served Nationwide product mission focus Voluntary Blood Donations method revenue endowment num volunteers num employees num members subsid owner Husaini Haematology and Oncology Trust non profit slogan Safe Blood, Save Lives former name homepage http www.husaini.org www.husaini.org dissolved footnotes Husaini Blood Bank is a noted Pakistani blood bank that collects blood donations, and offers cord blood banking and bone marrow registration and donations. HBB is a public health organization working for the welfare of the people of Pakistan. Hussaini Blood Bank was founded in 1979. The Husaini Haematology and Oncology Trust was founded by Dr. Hasan Ali Vajid , with a Blood Bank inside his Clinic at Soldier Bazar , Karachi . Its providing Safe Blood and Blood Components, treatment to Thalassaemia and Haemophilia Patients, Education of Blood Banking and Transfusion Medicine and Diagnostic Services. References http www.thenews.com.pk TodaysPrintDetail.aspx?ID 52524&Cat 4&dt 6 15 2011 Experts stress need for safe blood transfusion Daily The News External links http www.husaini.org Husaini Blood Bank s Official Website Category Blood banks Category Health in Pakistan ... more details
A type or type A may refer to A type asteroid , a type of relatively uncommon inner belt asteroids A type blood , a type in the ABO blood group system A type inclusion , a type of cell inclusions also known as Downie bodies A type potassium channel , a type of voltage gated potassium channel A type proanthocyanidin , a specific type of flavanoids A type star , a type of stars Type A Dolby Noise Reduction , a type of Dolby noise reduction systems Type A climate , a type in the K ppen climate classification Type A flu , a type of influenza virus Type A label , a music label producing for example the 2004 What Doesn t Kill You... Candiria album What Doesn t Kill You... album by Candiria Type A personality , a personality type in the Type A and Type B personality theory Type A submarine , a class of submarine in the Imperial Japanese Navy which served during the Second World War Hemophilia type A , a type of haemophilia Renault A Type engine , a straight 4 automobile engine Toyota Type A engine Vauxhall A Type , a car manufactured by Vauxhall Motors from 1908 to 1915 Type A artist collective , a pair of New York based artists named Adam Ames and Andrew Bordwin 4x4, a vehicle in the Grand Theft Auto series Grand Theft Auto series See also A Types , the third full length album released by the melodic hardcore band Hopesfall disambiguation ... more details
Infobox person name Osman Aden Abdulle br image ethnicity Somali people Somali birth date birth place occupation geneticist , physician known for networth spouse children Osman Aden Abdulle lang so Cismaan Aaden Cabdulle , lang ar is a prominent Somali people Somali physician and geneticist . ref http news.bbc.co.uk 1 hi world africa 3047835.stm Peace strike closes Somali capital ref Biography Osman is the son of Somalia s first president Aden Abdulle Osman Daar . He is the director of the Blood transfusion Blood Transfusion Public services Service in Mogadishu , and is the World Health Organization s representative in Somalia. In 1987, he and his colleagues jointly discovered a new RHCE gene Rh gene complex producing the rare antigen Cx Rh9 antigen in the Somali people Somali population . Work Haemophilia in Somalia 1989 Distribution of blood groups in the East African Somali population 1987 References reflist Persondata Metadata see Wikipedia Persondata . NAME Abdulle, Osman Aden ALTERNATIVE NAMES SHORT DESCRIPTION geneticist DATE OF BIRTH PLACE OF BIRTH DATE OF DEATH PLACE OF DEATH DEFAULTSORT Abdulle, Osman Aden Category Somalian scientists Category Living people Somalia scientist stub ... more details
Infobox non profit name Canadian Hemophilia Society image Image CHS SCHlogo.jpg 250px type Health Advocacy Group founded date 1953 tax id registration id founder Frank Schnabel location Montreal , Quebec , Canada coordinates origins key people area served Canada product mission The Canadian Hemophilia Society strives to improve the health and quality of life for all people with inherited bleeding disorders and to find a cure. focus method revenue Non Profit Organization endowment num volunteers num employees num members subsid owner non profit slogan Help Stop the Bleeding former name homepage http www.hemophilia.ca dissolved footnotes The Canadian Hemophilia Society CHS is an organization whose mission is to lead the fight against inherited bleeding disorders by helping people affected live healthy lives while searching for a cure. The organization consists of chapters in every province in Canada, and a national organization direction to the provincial chapters. health stub Nonprofit org stub Category Health advocacy groups Category Health charities Category International nongovernmental organizations Category Haemophilia ... more details
Infobox Officeholder name Ryuhei Kawada br small small image Kawada Ryuhei san.JPG order office Member of the House of Councillors term start 29 July 2007 term end predecessor successor constituency Tokyo s At large district Tokyo majority birth date Birth date and age 1976 1 12 mf y birth place Kodaira, Tokyo , Japan birthname spouse Mika Tsutsumi 2008 present children alma mater Tokyo Keizai University party Your Party website http ryuheikawada.jp nihongo Ryuhei Kawada Kawada Ry hei extra January 12, 1976 is a Japanese activist, haemophilia c, and member of the House of Councillors . HIV tainted blood scandal in Japan main HIV tainted blood scandal Japan In the late 1980s, between one and two thousand Japanese patients with haemophilia contracted HIV via HIV tainted blood scandal Japan tainted blood products . Upon discovering he was one of the affected, Ryuhei Kawada joined the lawsuit against Green Cross Japan Green Cross Corporation that provided the tainted blood products, which eventually led to the guilty pleas from three executives in 1997. ref http www.cbsnews.com stories 2000 02 24 world main164402.shtml CBS News 2000 Japan Convictions In Blood Scandal ref Political career In the Japanese House of Councillors election, 2007 , Kawada won a seat in the House of Councillors. He has expressed a desire to work on issues of health, welfare, and labour. He has also indicated he will form a Green Party of Japan based on the Rainbow and Greens which supported his campaign. He belonged to Your Party in December 2009. References references External links Commons category Ryuhei Kawada http ryuheikawada.jp Ryuhei Kawada official campaign supporters website Articles about Ryuhei Kawada in English http search.japantimes.co.jp cgi bin nn20070713a4.html Japan Times 2007 07 13 Novice candidates have issues http www.asahi.com english Herald asahi TKY200707230122.html Asahi 2007 07 23 Cover Story Signs of change http www.journeythroughjapan.org people people det ... more details
Image Crozier, Edinburgh from Salisbury Crags.jpg thumb 275px Edinburgh from Salisbury Crags , 1927, National Gallery of Scotland . William Crozier 1893 &ndash 1930 was a Scottish people Scottish landscape art landscape Painting painter . Born in Edinburgh , Crozier studied at Edinburgh College of Art and was a fellow student and friendly with William George Gillies William Gillies , Anne Redpath and William MacTaggart . These artists are all associated with The Edinburgh School . Assisted by a travelling scholarship, Crozier studied under the Cubism cubist painter Andr Lhote in Paris in 1923. He also travelled to Italy , where he was particularly taken by the bright sunlight and resultant deep shadows, a quality which he later sought to capture in his work. This aspect of his painting and the cubist influences are evident in his 1927 painting, Edinburgh from Salisbury Crags . The buildings are represented as simple geometric blocks with intense contrast between the sunlit facades and heavily shaded sides. Crozier suffered from Hemophilia haemophilia and was affected by ill health for most of his life. He died aged only 37 after a fall in his studio. External links http www.nationalgalleries.org collections artist search.php?artistId 3024&initial C&artistName William 20Crozier William Crozier at the National Gallery of Scotland Persondata Metadata see Wikipedia Persondata . NAME Crozier, William ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH 1893 PLACE OF BIRTH DATE OF DEATH 1930 PLACE OF DEATH DEFAULTSORT Crozier, William Category 1893 births Category 1930 deaths Category Scottish painters Category Landscape artists Category Cubist artists Category Alumni of the Edinburgh College of Art Scotland bio stub UK painter stub ... more details
infobox UK place country England official name Upton Lovell population 183 population ref http www.wiltshire.gov.uk community getcensus.php?id 252 unitary england Wiltshire Council Wiltshire lieutenancy england Wiltshire region South West England constituency westminster Westbury UK Parliament constituency Westbury post town Warminster postcode district BA12 0xx postcode area BA dial code 44 0 1985 os grid reference ST948408 latitude 51.1667 longitude 2.0751 Upton Lovell is a village and civil parish in Wiltshire , England . It is situated on the A36 road A36 , near Warminster , and by the River Wylye . History Upton Lovell is an ancient settlement, with a medieval Church of England parish church dedicated Saint Peter . Its parish register s are kept at the Wiltshire and Swindon History Centre for the years 1654 1992 baptism s , 1654 1975 marriage s , and 1653 1991 burials . ref http www.genuki.org.uk big eng WIL UptonLovell Upton Lovell at Genuki website ref The village s public house pub is called the Prince Leopold, ref http www.princeleopoldinn.co.uk The Prince Leopold web site ref in memory of Prince Leopold, Duke of Albany , the youngest son of Queen Victoria , who lived at Boyton Manor in the neighbouring village of Boyton, Wiltshire Boyton . He died of haemophilia in 1884. Local government Upton Lovell has its own Parish councils in England parish council , but almost all local government functions are now carried out by Wiltshire Council , a unitary authority created in 2009, with its offices in Trowbridge . The village is represented in House of Commons of the United Kingdom parliament by Andrew Murrison Conservative Party UK Conservative and in Wiltshire Council by Christopher Newbury Independent politician Independent . References reflist External links Commons category inline Upton Lovell Category Villages in Wiltshire Wiltshire geo stub nl Upton Lovell pl Upton Lovell ... more details
France s Infected blood scandal began in April 1991 when doctor and journalist Anne Marie Casteret published an article in the weekly magazine the L v nement du jeudi proving that the Centre National de Transfusion Sanguine knowingly distributed blood products contaminated with HIV to haemophiliac s in 1984 and 1985. In 1992, Anne Marie Casteret published a book Blood scandal L affaire du sang which refuted the argument that nobody was aware in 1985 that the heating of blood made the virus inactive. The book included evidence that as early as 1983, researchers had put forth this assumption. ref cite book title L affaire du sang author Anne Marie Casteret publisher Editions La D couverte year 1992 isbn 2707121150 ref ref cite book title Le sang et le SIDA une enqu te critique sur l affaire du sang contamin et le scandale des transfusions sanguines author Jean Sanitas publisher L Harmattan year 1994 isbn 2738430856 ref In 1999, the former socialist Prime Minister Laurent Fabius , former Social Affairs Minister Georgina Dufoix and former Health Minister Edmond Herve were charged with manslaughter . The Court of Cassation France Court of Justice of Republic found Edmond Herve guilty, and acquitted Fabius and Dufoix. Although Herve was found guilty, he received no sentence. ref cite news title Court acquits former prime minister author Mike Ingram date March 12, 1999 url http www.wsws.org articles 1999 mar1999 hiv m12.shtml accessdate 2007 02 18 ref ref cite news url http news.bbc.co.uk 1 hi world europe 293367.stm title Blood scandal ministers walk free date March 9, 1999 accessdate 2007 02 18 work BBC News ref See also Contaminated haemophilia blood products References references Category HIV AIDS in France Category Health disasters in France Category 1991 in France ... more details
Infobox settlement name Spa a settlement type Village total type image flag image shield image map coordinates region PL subdivision type Countries of the world Country subdivision name POL subdivision type1 Voivodeships of Poland Voivodeship subdivision name1 d Voivodeship d subdivision type2 Powiat County subdivision name2 Tomasz w Mazowiecki County Tomasz w Mazowiecki subdivision type3 Gmina subdivision name3 Gmina Inow dz Inow dz latd 51 latm 32 lats 28 latNS N longd 20 longm 8 longs 17 longEW E pushpin map Poland pushpin label position bottom elevation m population total 400 website Spa a IPAc pl s p a a is a village in the administrative district of Gmina Inow dz , within Tomasz w Mazowiecki County , d Voivodeship , in central Poland. It lies on the Pilica River , approximately convert 6 km mi 0 west of Inow dz , convert 9 km mi 0 abbr on east of Tomasz w Mazowiecki , and convert 54 km mi 0 abbr on south east of the regional capital d . ref name TERYT cite web url http www.stat.gov.pl broker access prefile listPreFiles.jspa title Central Statistical Office GUS &ndash TERYT National Register of Territorial Land Apportionment Journal date 2008 06 01 language Polish ref The village has a population of 400. It gives its name to the protected area called Spa a Landscape Park . Spa a was the site of the Central European Jamboree in 1935, and of the International Young Physicists Tournament in 1995. Notable occurrences Spala was the location of a hunting lodge owned by Emperor of Russia Emperor Nicholas II of Russia Nicholas II of Russian Empire Russia . In 1912 Grigori Rasputin allegedly healed the Tsarevich Alexei Nikolaevich, Tsarevich of Russia Alexei Nikolaevich , who suffered from haemophilia , from a fatal hemorrhage. References Reflist br Gmina Inow dz coord 51 32 28 N 20 8 17 E region PL type city display title Category Villages in Tomasz w Mazowiecki County Spala Tomasz wMazowiecki geo stub pl Spa a ... more details
Pseudodominance is the situation in which the inheritance of an autosomal recessive trait mimics an autosomal dominant pattern. ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages 699 isbn 1 4160 2999 0 oclc doi accessdate ref ref http www.integrativepractitioner.net article ektid15818.aspx Curly hair ankyloblepharon nail dysplasia Integrative Practitioner ref The pattern of inheritance in which the recessive allele could give its expression in absence of its dominant allele is known as pseudodominance. Haemophilia and colour blindness are the genetic disease due to X linked recessive allele giving their expression in human male is pseudodominance and in human female is dominance. Pseudodominance also observed in autosomal recessive condition in subsequent generations .This could happen in the case of loss of genetic material from one homolog bearing the dominant allele. The heterozygous condition is therefore lost at that particular locus and the recessive phenotype is revealed. See also Central dogma of molecular biology Note Hemophilia and Colorblindness are sex linked RECESSIVE traits. References reflist External links http www.nature.com jid journal v126 n4 full 5700115a.html Pseudoxanthoma Elasticum Is a Recessive Disease Characterized by Compound Heterozygosity Journal of Investigative Dermatology http www.genetics.org cgi reprint 137 3 855.pdf Molecular Genetics of the Brown b Locus Region of Mouse Chromosome Complementation Analyses of Lethal Brown Deletions Genetics Society of America http www.accessmedicine.com content.aspx?aid 2976229 Alkaptonuria Access Medicine genetics stub Category Autosomal recessive disorders fa ... more details
was diagnosed with haemophilia as a young child, but, despite this, was a very cheerful and lively ... that bad and the child would have survived had he not been a Haemophilia haemophiliac . However ... s older brothers, Prince Waldemar of Prussia 1889 1945 Prince Waldemar , also had haemophilia ... Forum http www.theroyalforums.com forums f96 haemophilia in european royalty 10254 2.html The Royal Forums See Also Prussian princes British haemophilia line Persondata Metadata see Wikipedia Persondata ... more details
George Brownlee Fellow of the Royal Society FRS is a British pathologist . He is a fellow of Lincoln College, Oxford . Life He earned a PhD at Emmanuel College, Cambridge , where he studied with Fred Sanger . ref http www.linc.ox.ac.uk index.php?page profile&aid 65 ref He was Professor of Chemical Pathology at Sir William Dunn School of Pathology , from 1978 to 2008. Career He cloned and expressed human clotting factor IX, ref Nature 299, 178 180 1982 doi 10.1038 299178a0 Molecular cloning of the gene for human anti haemophilic factor IX. K. H. Choo, K. G. Gould, D. J. G. Rees & G. G. Brownlee ref ref Nature 315, 683 685 1985 doi 10.1038 315683a0 Expression of active human clotting factor IX from recombinant DNA clones in mammalian cells.D. S. Anson , D. E. G. Austen & G. G. Brownlee ref providing a recombinant source of this protein for Haemophilia B patients who had proviously relied on the hazardous blood derived product. With Peter Palese and co workers, he developed the first reverse genetics system for influenza virus, markedly speeding up the process of developing flu vaccines ref J Virol. 1999 Nov 73 11 9679 82.Rescue of influenza A virus from recombinant DNA. Fodor E, Devenish L, Engelhardt OG, Palese P, Brownlee GG, Adolfo Garc a Sastre Garc a Sastre A . ref References reflist External links Persondata NAME Brownlee, George ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH PLACE OF BIRTH DATE OF DEATH PLACE OF DEATH DEFAULTSORT Brownlee, George Category British pathologists Category Fellows of the Royal Society Category Alumni of Emmanuel College, Cambridge Category Academics of King s College London Category Fellows of Lincoln College, Oxford Category Living people ... more details
Vladimir Nikolaevich Derevenko 1879 1936 ref http eng.tzar.ru info newsarchive ?id 3012 ref was a Russians Russian physician and surgeon who served at the court of Emperor of Russia Emperor Nicholas II of Russia . Nicholas abdicated in February Revolution March 1917 and was exiled with his family to the Siberia n village of Tobolsk that August, a journey on which Derevenko and his family voluntarily embarked. In May 1918 the Derevenkos accompanied the Imperial family to the Siberian city of Yekaterinburg . They were prohibited from staying with the family inside the Ipatiev House they stayed in a house across the street , though Derevenko was occasionally allowed to treat Nicholas s son, Aleksey Nikolaevich, Tsarevich of Russia Aleksey Nikolaevich , who suffered from haemophilia . Derevenko s son, Kolya Derevenko Nicholas , was Aleksey s best friend. On the night of 16 17 July 1918 the Murder of the Romanov family former Imperial family and four retainers were murdered by order of the Bolshevik government, one week after which the city fell to the anti Bolshevik White Army , as the ongoing Russian Civil War civil war reached its climax. Derevenko and his family remained in Yekaterinburg, where he practiced medicine and aided White investigators in their inquiry into the Imperial family s murder, until late 1918 when the Bolshevik Red Army recaptured the city and Derevenko moved his family to the White Army stronghold of Perm , where he taught at Perm University s hospital. The Bolsheviks regained the city the next year and the Derevenkos again relocated, this time to Tomsk , where he became head of the district military hospital. He was arrested by the NKVD in the early 1930s and executed in 1936, during the Great Purge . References Reflist Persondata NAME ALTERNATIVE NAMES SHORT DESCRIPTION Russian surgeon DATE OF BIRTH 1879 PLACE OF BIRTH DATE OF DEATH 1936 PLACE OF DEATH Category 1879 births Category 1936 deaths Category Executed Russian people Category Great Pur ... more details
other uses Infobox university name Centenary Institute native name Centenary Institute of Cancer Medicine br and Cell Biology image name Centenary Institute logo.png image size image alt caption latin name motto Research for life mottoeng established 1989 closed type affiliation endowment budget officer in charge chairman The Honourable Michael Egan Australian politician Michael Egan chancellor president vice president superintendent provost vice chancellor rector principal dean director Professor Mathew Vadas head label head academic staff administrative staff students undergrad postgrad doctoral other city Sydney state New South Wales province country Australia coor campus Urban former names free label free colors colours athletics sports nickname mascot affiliations Royal Prince Alfred Hospital , Sydney Medical School , University of Sydney website http www.centenary.org.au centenary.org.au logo footnotes The Centenary Institute of Cancer Medicine and Cell Biology , commonly referred to as the Centenary Institute or Centenary , is a world class medical research facility located at the University of Sydney , Australia . The research programs at Centenary focus on a diverse range of human health issues including cancer , cardiovascular disease , genetic diseases , immunology , infectious diseases and liver disease . Over its history, Centenary has achieved the following outcomes in medicine and public health Uncovered new approaches to treating breast cancer that have caused an increase in the survival rate. Prevention of sudden cardiac death through early diagnosis and treatment. High success rate of liver transplants. Improved prognosis for patients with liver cancer and hepatitis C. Improvement in the treatment of haemophilia. Developed new ways of detecting a person s propensity to develop asthma and inflammatory bowel disease. Category Sydney Medical School Category Medical research institutes Category Cancer organizations Category Laboratories Category Resear ... more details
Langenburg . Leopold Haemophilia in European royalty inherited the disease haemophilia from ... him at home, saw marriage as his only hope of independence. Due to his haemophilia, he had difficulty .... Later life Prince Leopold had haemophilia, diagnosed in childhood and in early years had various physicians ... on doctor s orders joint pain is a common symptom of haemophilia and the winter climate in England ... current King of Sweden . The haemophilia gene is carried on the X chromosome , and is normally passed ... is a carrier of the gene. Leopold s daughter Alice inherited the haemophilia gene, and passed it to her son Rupert Cambridge, Viscount Trematon Rupert one of the few known cases of haemophilia ... more details
. B. S. Haldane which reported a Genetic linkage linkage between the gene s for colourblindness and haemophilia ... The Linkage between the Genes for Colour Blindness and Haemophilia in Man journal Proc. Roy. Soc ... more details
C deficiency. Haemophilia. 2008 Nov 14 6 1214 21 ref Studies have demonstrated an increased risk ... Johnson MJ. Protein C deficiency. Haemophilia. 2008 Nov 14 6 1214 21 ref Homozygous protein C ... more details
Officially the AIDS HIV pandemic came to Iraq via contaminated blood in 1986, with haemophilia cs being the primary victims. Over the decades, educational and treatment initiatives have been slowed by prevailing cultural values, economic hardships brought about by sanctions and war. 1986&ndash 2003 According to the Iraqi government, and a subsequent lawsuit, the pandemic came to Iraq via contaminated blood in 1986, with haemophilia cs being the initial victims. ref http www.poz.com articles 1 10301.shtml POZ News Iraq s First HIV Lawsuit Bot generated title ref The Baath Party Ba athists relocated Iraqis found to be infected with AIDS HIV to a segregated medical facility. No one was allowed to visit these facilities, patients were basically prisoners and were given secret burials. Ignorance about the disease was commonplace, even among the government itself. The former Iraqi President, Saddam Hussein , wrongly believed that the disease could be spread through casual contact and felt that infected Iraqis should be exterminated or imprisoned. ref http www.aegis.com news afp 2003 AF030516.html ref When the regime fell, these segregated hospitals were looted and the surviving patients were left to wander the streets. Post Ba athist As early as 2004 the United Nations IRIN news service reported on the challenges involved in AIDS HIV treatment and education in Iraq. ref http www.irinnews.org print.asp?ReportID 43620 ref Almost no education existed regarding AIDS HIV during the Ba athist regime and thus a high degree of ignorance and fear surrounds the pandemic and its victims. The Iraqi government offers free medical services and financial assistance to all Iraqi citizens living with AIDS HIV . This includes regular checkups for the infected person, along with checkups for their partners and family members. ref http www.irinnews.org Report.aspx?ReportId 82357 ref Public service announcements and some education in the schools have begun at a slow pace. Government health officials ... more details
orphan date September 2008 for the Japanese lexical law no s lexical law Ohno s law was proposed by a Japanese biologist Susumu Ohno , saying that the gene content of the mammal ian species has been conserved over species not only in the DNA content but also in the genes themselves. That is, nearly all mammalian species have conserved the X chromosome from their primodial X chromosome of a common ancestor. ref name Ohno67 Ohno S 1967 . Sex Chromosomes and sex linked genes. Berlin Springer Verlag. ref Evidence As a Cell biology cytological evidence, in first, mammalian X chromosomes in various species, including human and mouse , have nearly the same size, with the content of about 5 of the genome. Second, for individual Locus genetics gene loci , a number of X linked genes are common through mammalian species. Examples are found in glucose 6 phosphate dehydrogenase G6PD , a gene for polypeptide of antihemophilic globulin AHG or Factor VIII in Haemophilia A hemophilia A and Haemophilia B B , and plasma thromboplastin component gene PTC or Factor IX . Moreover, no instances were found where an Sex linkage X linked gene in one species was located on an autosome in the other species. ref name Ohno67 Conservation mechanisms The content of a chromosome would be changed mainly by mutation after duplication of the chromosome and translocation with other chromosomes. However, in mammals, since the chromosomal Sex determination system sex determination mechanism would have been established in their earlier stages of evolution , polyploidy would have not occurred due to its incompatibility with the sex determining mechanism. Moreover, X autosome Chromosomal translocation translocation would have been prohibited because it might have resulted in detrimental effects for survival to the organism. Thus in mammals, the content of X chromosomes has been conserved after typical 2 round duplication events at early ancestral stages of evolution, at the fish or amphibia 2R hypothesis . ... more details
haemophilia A, mild or moderate type 1 von Willebrand disease and symptomatic carriers of haemophilia A. Haemophilia 2001 7 258 66. PMID 11380629. Pituitary and hypothalamic hormones and analogues ... more details
Infobox disease Name Jacobsen syndrome Image Jacobsen syndrome patient.JPG Caption Girl with Jacobsen syndrome DiseasesDB 31957 ICD10 ICD10 Q 93 5 q 90 ICD9 ICD9 758.3 ICDO OMIM 147791 MedlinePlus eMedicineSubj eMedicineTopic MeshName MeshNumber Jacobsen Syndrome , also known as 11q deletion disorder , is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause intellectual disabilities , a distinctive facial appearance, and a variety of physical problems including heart defects and a haemophilia bleeding disorder . The syndrome was first identified by Danish people Danish physician Petra Jacobsen, ref name pmid4134631 cite journal author Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J title An 11 21 translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study journal Hum. Hered. volume 23 issue 6 pages 568 85 year 1973 pmid 4134631 doi 10.1159 000152624 url ref and is believed to occur in approximately 1 out of every 100,000 births. Possible characteristics Heart defects Mild to severe intellectual disabilities Low platelets thrombocytopenia Facial skeletal dysplasia Wide set eyes caused by trigonocephaly Folding of the skin near the eye epicanthus Short, upturned nose anteverted nostrils Thin lips that curve inward Displaced receding chin retrognathia Low set, misshapen ears Permanent upward curvature of the pinkie and ring fingers camptodactyly Large great toes hammer toe Hammer toes In addition, patients tend to be shorter than average and have poor psychomotor skills. The majority of Jacobsen syndrome cases are not familial in nature, resulting from a spontaneous mutation occurring in a single parental gamete . However, some instances of familial disease resulting from local chromosome fragility or an chromosomal translocation unbalanced translocation have been described. Citation needed date Augus ... more details
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