HUM-MOLGEN archive: DIAG: 5 messages/1 PT REQ.

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 5 submessage(s): 1) BATTENS DISEASE/ req. for info 2) Fibrolamellar hepatacellular carcinoma/ PT. REQ. 3) familial neuroblastoma study 4) Idiopathic Haemosiderosis/ req. for info 5) Down Syndrome Management Query Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** What is Battens Disease? Do you know of an experts in this area? A friend's child has been diagnosed as such. It is treatable? Is it fatal? What is the genetic and molecular basis for this disease. Do you know of any literature-research or not on this subject? Please help by providing any information on this subject. Please send replies directly to me. thanks nsiah Dr. Yaw A. Nsiah, (Microbiology) Department of Biology, M237 Eastern Connecticut State University 83 Windham Street, Willimantic, CT 06226. Tel: 860-465-4524 Internet: Nsiah@ECSU.CTSTATEU.EDU. Fax: 860-465-5213 +++++++++++++++++++++++++++++ ************************************************************** I am looking for info on fibrolamellar hepatocellular cacinoma. It is an extremely rare variant of primary liver cancer. I have had this disease since September 1992. I have had chemotherapy and two unsuccessful surgeries renamed exploratory. If anyone knows of trials, experiments, etc... dealing with this disease or related area please email me. Thank you. PLEASE RELPY DIRECTLY TO THE HUMAN MOLECULAR GENETICS NETWORK Apparent patient location: Arizona ************************************************************** ************************************************************** Daer Colleagues, from several years my group is studying sporadic neuroblastoma. Recently we are interested in familial neuroblastoma. We observed two families: one (Famili M.) has a F1 with three children, two of them with neuroblastoma, stage 4 and stage 2 respectively, patient with stage 4 dead; the other family (Family C.) has a F1 with two children, one had stage 4 and neurofibroma and dead with disease progression, he had also an healthy youngest healthy sister. We are interested in a collaboration in the Familial Neuroblastoma Linkage Project and in any other Cooperation for familial neuroblastoma study. Thank. Gian Paolo Tonini -------------------------------------------------------- Name:Dr.Gian Paolo Tonini E-mail:tonini@sirio.cba.unige.it Address: Unit of Solid Tumor Biolgy Laboratory of Oncology/G.Gaslini Institut Advanced Biotecnology Center Tower D, 1st floor Largo R. Benzi,10 16136 Genova - Italy Tel:+39-10-5737.463,490 Fax:+39-10-5737.463 *** ATTENTION, NO STUDY APPROVAL INFORMATION PROVIDED TO HMGN *** ************************************************************** I am looking for information on this disease, Idiopathic haemosiderosis. I know of a patient who is suffering from it. At the moment, the only thing that seems to be done, according to my knowledge, is blood transfusions. I would be very grateful for any help in this matter. Thanking you Yours Sincerely, C.H.Sreekanth chsree@tifrvax.tifr.res.in (C.H.Sreekanth) ************************************************************** I have been reviewing the recent literature available to pediatricians regarding the primary care managment of patients with Trisomy 21. I have been unable to find a recommendation for screening blood counts. The practice of general pediatrics does not include complete blood counts for 'normal' patients at any point, though hematocrits are checked on a schedule by some. The overall risk of malignant myelodysplasias in Tri 21 is quoted generally at ~1%, which is low, but significantly increased over the general childhood population. My question is: is the risk of leukemia or leukemoid reaction in Trisomy 21 high enough that patients should have a screening CBC on some scheduled basis (once every few months to some age then once annually?)? If not, are the indications for diagnostic CBC in any way different from those in non-Down children who are suspected to have leukemia? Thanks for your help! Angela Scheuerle M.D. "Without courage you cannot practice ascheuer@ped1.med.uth.tmc.edu any other virtue consistently" -Maya Angelou