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  ouafa59 | Living with Behcet's, Presentation | published 1 day ago | Originally written in English the story of Katherine

  My name is Katherine, I remember back in May of 2002 the Friday before Mother's Day. I woke up at 5 am like I usually did met up with my group to do our long run. We often ran from 3 miles to 10 miles, depending how spunky we felt. I was the healthiest I ever had been. After the run and a shower, I dressed in my uniform and headed into the office. I was an Airman, A Staff Sergeant in the US Air Force. Stationed in Okinawa Japan, where I also spend a good part of growing up. We had to prepare for an up coming inspection...time to clean the building. I stepped out in the humidity and ocean breeze, that I loved. I began to sweep that nasty mold that tended to grow on the outside steps of our building. Took me less then 10 minutes to knock that black mold off and sweep it away. I step back into the nice cool air conditioned building. Within moments I begin to itch, thinking I must have sweated worse than I thought. I asked a co-worker if there were ants on me cause the itch just got worse and worse. I decided to run home and shower, took me a nice warm shower. Returned back to work by lunch time. Still the itch was out of control, that evening tried another shower this time a cold one, that didn't help nor did the benedryl. 10pm I head to the ER to get me something strong so I can sleep with out scratching, They give me something a little stronger then Benedryl and send me home. I wake up and realize something is wrong, something is very wrong, I can't breath. Something feels like its clawing me from the inside out. I am rushed to the hospital, I slip in and out of awareness. Spinal tap, comes out clean, exploratory surgery...finds nothing but takes my appendix anyway. Three days go by, I wake and my wedding band is gone. I can't move my limbs, I can't speak, I am completely freaked out. Another couple days and I am sent home..my husband told there is nothing more we can do make her as comfortable as possible. I fight I remember fighting the pain not to give up or give in to darkness, I so wanted to, but my kids they need me. Weeks go I can talk, I can walk a little, but I am starting to live again, with pain in every joint, but hey I am alive! The conclusion I inhaled a toxic mold spore while cleaning the building. Months go by another symptom, then another and yet another. They think I am crazy, I am pretending. They send me to Alaska, I hope there to get better care. No one can figure it out. I must be crazy it must be in my head. Symptom after symptom I must be making it up they can't find a thing wrong with me. 7 years later I transfer to Oklahoma City, still getting sick on and off but it's getting worse each time...finally I had enough I tell my Military docs send me somewhere if you can't figure it out..I can't live like this no more. I am sent to Dr. Kahn "MY HERO" with in 45 minutes of my history he pin points it. But he wants to rule out everything again...all the test the military has done over the past 9 years he does again just to be sure. No still not lupus. Finally a diagnosis that goes along with the Fibromyaglia diagnosis that was given to me several times...but never explained the ulcers the blurred vision...or the enlarged pulmonary artery. I am now undeployable and medically retired from the US Air Force. Its been years since my retirement, I have had so many flare ups I stopped counting. I am about to see a new specialist with in the VA...hoping for some relief. I do believe that had I not cleaned those stairs that day I may have avoided this disease at least until later in life, I was 29 years old then, now going on 40 I have learned to accept the things I can not change,courage to change the things I can and the wisdom to know the difference. Behcets has altered my life, but I will live my life and Behcets will NOT live it for me.
• 
  ouafa59 | Genetics, Research | published 9 days ago | Originally written in English TitA putative functional variant within the UBAC2 gene is associated with increased risk of Behçet's diseasele of topic

  Sawalha AH, Hughes T, Nadig A, Yılmaz V, Aksu K, Keser G, Cefle A, Yazıcı A, Ergen A, Alarcón-Riquelme ME, Salvarani C, Casali B, Direskeneli H, Saruhan-Direskeneli G.

  Source

  University of Oklahoma Health Sciences Center, Oklahoma City VA Medical Center, and Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma. [email protected]

  Abstract

  OBJECTIVE:

  Using a genome-wide association scan and DNA pooling, we previously identified 5 novel genetic susceptibility loci for Behçet's disease. We undertook this study to establish the genetic effect within the UBAC2 gene, in the course of which we replicated this genetic association and identified a functional variant within this locus.

  METHODS:

  We studied a total of 676 Behçet's disease patients and 1,096 controls. The discovery set included 156 patients and 167 controls from Turkey, and the replication sets included 376 patients and 369 controls from Turkey and 144 patients and 560 controls from Italy. Genotyping of 14 single-nucleotide polymorphisms (SNPs) within and around UBAC2 was performed using TaqMan SNP genotyping assays.

  RESULTS:

  The genetic association between Behçet's disease and UBAC2 was established, replicated, and confirmed (meta-analysis odds ratio 1.84, P = 1.69 × 10(-7) ). Haplotype analysis identified both a disease-risk haplotype and a protective haplotype (P = 0.00014 and P = 0.0075, respectively). Using conditional haplotype analysis, we identified the SNP rs7999348 (A/G) within UBAC2 as the most likely SNP with a genetic effect independent of the haplotypic effect formed by the remaining associated SNPs in this locus. Indeed, we demonstrated that rs7999348 tags a functional variant associated with increased messenger RNA expression of a UBAC2 transcript variant in peripheral blood mononuclear cells of individuals homozygous for the Behçet's disease-associated "G" allele. Further, our data suggested the possibility of multiple genetic effects that increase susceptibility to Behçet's disease in the UBAC2 locus.

  CONCLUSION:

  We established and confirmed the genetic association between UBAC2 and Behçet's disease in 3 independent sets of patients and controls. We identified the minor allele in rs7999348 as a disease-risk allele that tags altered UBAC2 expression.

  Copyright © 2011 by the American College of Rheumatology.

  PMID: 21918955 [PubMed - in process] PMCID: PMC3205238 [Available on 2012/11/1]
  One reply to the topic — see all replies

  • 
    kbran72 published 4 days ago | Originally written in English

    If your group is in Oklahoma City, I too am here in Oklahoma City. I have Behcet's Disease. I know exactly when all my symptoms began and what the match was the started the flame, I also have much information to share having learned now in high sight that my mother died with Behcets from an aortic aneurysm. If you would like to help one another in our search for a cure, cause or some sense of this disease please let me know. You can email me at [email protected]
    I also want to add since being medically retired from the USAF I now am being seen at the VA Hospital.
• 
  ouafa59 | Italiano, Treatments, Research | published 5 days ago | Originally written in Italian L'interleuchina potrebbe curare le malattie autoimmuni

  L'interleuchina 2 potrebbe curare le malattie autoimmuni L'interleuchina è nota per il suo utilizzo nel trattamento di alcuni tumori, ma anche per i suoi effetti collaterali in dosi elevate. I ricercatori hanno dimostrato che interleuchina-2 potrebbe essere efficace, a basso dosaggio, per il trattamento di diverse malattie autoimmuni. Una speranza per le persone con Diabete di tipo 1, sclerosi multipla o artrite reumatoide. Due squadre francesi hanno pubblicato nel Il New England Journal of Medicine (NEJM), i lavori che favoriscano opportunità risolutamente nuove nel trattamento di alcune malattie autoimmuni. Basse dosi di interleuchina 2, somministrate a pazienti con una complicazione di Epatite autoimmune C, hanno infatti migliorato la loro condizione. Questi primi risultati danno la speranza di estendere questi benefici ad altre malattie autoimmuni: il diabete di tipo 1 e sclerosi multipla, ma anche esempio, l'artrite reumatoide ... In Francia, tra i 2 ei 3 milioni di pazienti soffrono di malattie autoimmuni. In questo caso, il sistema di difesa, impegnato nella lotta contro il attacchi esterni (microbi. ..), impazzisce eattacca le cellule del paziente stesso. Immagine della gamba Interleuchina 2 è stata efficace per chi soffre di vasculite, le complicanze autoimmuni dell'epatite C. © James Heilman MD, Wikipedia CC dal suo 3,0 Interleuchina 2: verso un trattamento malattie autoimmuni? Questo lavoro è frutto della collaborazione tra squadre della Pitié-Salpêtrière, Assistenza Pubblica-Hôpitaux de Paris (AP-HP), Università Pierre e Marie Curie, CNRS e Inserm. Gli autori hanno trattato i pazienti con vasculite, vale a dire, una complicazione vascolare indotta da epatite C. L'interleuchina 2,somministrato a basse dosi ha stimolato la cellule T regolatorie. Eppure la maggior parte delle malattie autoimmuni sono caratterizzate proprio da un deficit di cellule T regolatorie. Interleuchina 2 è conosciuto da oltre venti anni. E 'infatti indicata nella gestione di tumori del rene o melanomi. Tuttavia, la sua efficacia è modesto e, a dosi elevate, provoca effetti collaterali significativi. L'interleuchina 2 può curare le malattie autoimmuni Lo studio pubblicato sul NEJM è stato condotto su solo 10 pazienti. Dimostra, tuttavia, per la prima volta che l'interleuchina 2 può essere efficace a sostegno di una malattia autoimmune. Prove di trattamento del diabete di tipo 1 sono già in atto nell’ ospedale Pitié-Salpêtrière. Le Interleuchine, sono molecole prodotte dalle cellule del sistema immunitario giocano un ruolo di cellule-mediatrici. Interleuchine 2, anche a basso dosaggio, potrebbe curare le malattie autoimmuni. © DR Il 3 dicembre 2011 alle 11:33
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  • 
    ouafa59 published 5 days ago | Originally written in French

    L’interleukine 2 pourrait soigner les maladies auto-immunes
    L’interleukine est connue pour son utilisation dans le traitement de certains cancers, mais également pour ses effets secondaires importants à fortes doses. Des chercheurs ont montré que
    l’interleukine 2 pouvait être efficace, et à faibles doses, pour soigner plusieurs maladies auto-immunes.
    Un espoir pour les personnes souffrant de diabète de type 1, de sclérose en plaques ou encore
    de polyarthrite rhumatoïde.
    Deux équipes françaises viennent de publier dans le New England Journal of Medicine (NEJM), des
    travaux qui ouvrent des perspectives résolument nouvelles dans le traitement de certaines maladies
    auto-immunes. De faibles doses d’interleukine 2,administrées à des patients souffrant d’une complication auto-immune de l’hépatite C, ont en effet permis d’améliorer leur état général. Ces premiers résultats suscitent l’espoir d’étendre ces bénéfices à d’autres affections auto-immunes : le diabète de type 1 et la sclérose en plaques mais également par exemple, la polyarthrite rhumatoïde…
    En France, entre 2 et 3 millions de malades souffrent d’une affection dite auto-immune. Dans ce cas, le système de défense, engagé dans la lutte contre les attaques extérieures (microbes...), s’emballe et attaque les propres cellules du malade.
    L’interleukine 2 a été efficace pour des personnes souffrant de vascularite,
    une complication auto-immune de l’hépatite C. © James Heilman MD, Wikipedia
    CC by sa 3.0
    Interleukine 2 : vers un traitement des maladies auto-immunes ?
    Ce travail est le fruit d’une collaboration entre des équipes de l’Hôpital de la Pitié-Salpêtrière, l’Assistance publique-Hôpitaux de Paris (AP-HP), de l’Université Pierre et Marie Curie, du CNRS et de l’Inserm.
    Les auteurs ont traité des patients présentant une vascularite, c’est-à-dire une complication vasculaire induite par une hépatite C. L’interleukine 2, administrée à faibles doses a permis de stimuler les lymphocytes T régulateurs. Or la majorité des maladies
    auto-immunes se caractérisent précisément par une insuffisance en lymphocytes T régulateurs.
    L’interleukine 2 est connue depuis plus de vingt ans.
    Elle est en effet indiquée dans la prise en charge de certains cancers du rein ou mélanomes. Cependant, son efficacité est modeste et, à fortes doses, elle entraîne des effets indésirables importants.
    Le 3 décembre 2011 à 11h33

    L’étude publiée dans le NEJM a été menée sur seulement 10 patients. Elle démontre néanmoins pour la première fois que l’interleukine 2 peut être efficace dans la prise en charge d’une maladie auto-immune.
    Des essais de traitement du diabète de type 1 sont déjà en cours à l’hôpital de la Pitié-Salpêtrière.

    Les interleukines, des molécules fabriquées par les cellules immunitaires,
    jouent un rôle de médiation cellulaire. Les interleukines 2, même en faibles
    doses, pourraient soigner les maladies auto-immunes. © DR
    Le 3 décembre 2011 à 11h33
    www.futura-sciences.com/fr/news/t/medecine...
• 
  ouafa59 | Genetics, Research | published 9 days ago | Originally written in English A putative functional variant within the UBAC2 gene is associated with increased risk of Behçet's disease

  Orphanet Newsletter dec.2nd 2011
  A putative functional variant within the UBAC2 gene is associated with increased risk of Behçet's disease.
  
  Sawalha AH, Hughes T, Nadig A, Yılmaz V, Aksu K, Keser G, Cefle A, Yazıcı A, Ergen A, Alarcón-Riquelme ME, Salvarani C, Casali B, Direskeneli H, Saruhan-Direskeneli G.
  Source
  University of Oklahoma Health Sciences Center, Oklahoma City VA Medical Center, and Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma. [email protected]
  
  Abstract
  
  OBJECTIVE:

  Using a genome-wide association scan and DNA pooling, we previously identified 5 novel genetic susceptibility loci for Behçet's disease. We undertook this study to establish the genetic effect within the UBAC2 gene, in the course of which we replicated this genetic association and identified a functional variant within this locus.
  
  METHODS:

  We studied a total of 676 Behçet's disease patients and 1,096 controls. The discovery set included 156 patients and 167 controls from Turkey, and the replication sets included 376 patients and 369 controls from Turkey and 144 patients and 560 controls from Italy. Genotyping of 14 single-nucleotide polymorphisms (SNPs) within and around UBAC2 was performed using TaqMan SNP genotyping assays.
  
  RESULTS:

  The genetic association between Behçet's disease and UBAC2 was established, replicated, and confirmed (meta-analysis odds ratio 1.84, P = 1.69 × 10(-7) ). Haplotype analysis identified both a disease-risk haplotype and a protective haplotype (P = 0.00014 and P = 0.0075, respectively). Using conditional haplotype analysis, we identified the SNP rs7999348 (A/G) within UBAC2 as the most likely SNP with a genetic effect independent of the haplotypic effect formed by the remaining associated SNPs in this locus. Indeed, we demonstrated that rs7999348 tags a functional variant associated with increased messenger RNA expression of a UBAC2 transcript variant in peripheral blood mononuclear cells of individuals homozygous for the Behçet's disease-associated "G" allele. Further, our data suggested the possibility of multiple genetic effects that increase susceptibility to Behçet's disease in the UBAC2 locus.
  
  CONCLUSION:

  We established and confirmed the genetic association between UBAC2 and Behçet's disease in 3 independent sets of patients and controls. We identified the minor allele in rs7999348 as a disease-risk allele that tags altered UBAC2 expression.
  
  Copyright © 2011 by the American College of Rheumatology.
  
  PMID: 21918955 [PubMed - in process] PMCID: PMC3205238 [Available on 2012/11/1]