HUM-MOLGEN archive: DIAG

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 4 professional requests and 2 patient requests: 1) Kartagener Syndrome 2) Neurofibromatosis (Type 2) - patient request 3) Rogers Syndrome 4) Molybdenum Cofactor Deficiency 5) Renal-hepatic-pancreatic dysplasia and laterality defects (MIM 263200) 6) Neuroacanthocytosis - patient request. REPLIES TO PROFESSIONAL REQUESTS SHOULD BE SENT TO THE PERSON MAKING THE REQUEST AND NOT TO HUM-MOLGEN. Carlo Gambacorti, MD, Editor Harker Rhodes, MD, Assistant Editor Robert Resta, MS, Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************************************** ***************************************************************************** 1) Kartagener Syndrome I am general practitioner and I have a 10 yr old patient who has Kartagener Syndrome. I would like to make contact with medical research personel studying new drugs for improvement function of immotile respiratory cilia or researching function of bronchial gland. I wish to help with my clinical experience in this case of Kartagener Syndroma. Language for contact may be also German. Thank You Dr.Nada Majic Topolnica 15 HR-10 000 Zagreb Croatia e-mail: timajic@public.srce.hr ********** 2) Neurofibromatosis type 2 PATIENT REQUEST. PLEASE REPLY TO HUM-MOLGEN Apparent patient location: New Jersey, USA I am looking for any clinical trials for therapies, either as cures or "bridge therapies" for NF2 or benign tumors. My son has: bilateral vestibular schwannomas--one removed and now deaf in that ear optic sheath meningioma-removed, blind in that eye, tumor regrowing ependymoma in medulla pineal cyst causing mass effect left frontal lobe tumor cervical spine tumors-4 to date haven't scanned other portions of spine yet We tried hydroxyurea, based upon Rudolf Fahlsbach research, but his counts dropped terribly and he was already almost blind in that eye Interferon--on too short time, before we tried hydroxyurea concerned about peripheral neuropathy with thalidimide what else is out there--not even specific to NF2? Thank you ********** 3) Rogers Syndrome We have recently mapped a gene for a very rare autosomal recessive disorder the Rogers Syndrome also known as Thiamine-Responsive megaloblastic anemia. Clinical symptoms are diabetes mellitus, deafness and megaloblastic anemia, responding to various degrees to thiamine treatment. Our best mapping interval is now within a 4cM region on 1q23. We are trying to gather as many as possible affected families to reduce the linkage interval.Is anyone interested to collaborate with us and send DNAs from affected families. It would be of great help. This project has IRB approval. Many Thanks Nadine Cohen, Ph.D. Department of Genetics Technion-Israel Institute of Technology-Bruce Rappaport Faculty of Medicine POB 9649, Haifa 31096 Israel Tel: 972.4.8295228 Fax: 972.4.8295225 E-mail: nadine@tx.technion.ac.il ********** 4) Molybdenum Cofactor Deficiency We have mapped recently a gene for the Molybdenum Cofactor Deficiency syndrome. We are interested in receiving affected families (DNAs or cell lines) to reduce our linkage interval and also to search for a second locus. Is anyone interested in collaboration. This project has IRB approval. Many thanks Nadine Cohen, Ph.D. Department of Genetics Technion-Israel Institute of Technology-Bruce Rappaport Faculty of Medicine POB 9649, Haifa 31096 Israel Tel: 972.4.8295228 Fax: 972.4.8295225 E-mail: nadine@tx.technion.ac.il ********** 5) Renal-hepatic-pancreatic dysplasia and laterality defects (MIM 263200) I have a 2 year old patient with renal-hepatic-pancreatic dysplasia and laterality defects (MIM 263200). She is developmentally normal, and has good renal function, and her liver function is good after a procedure to bypass extra-hepatic biliary atresia. This human condition is thought to be the equivalent of the mouse inv mutant. However, all the reports I can find are about the neonatal stage of the disease. Does anyone has any information on the longer term outcome on children with this condition? The parents are also keen to talk to (or e-mail) any other parents of a child with the same condition. Can anyone help ? Andrew Green Prof. of Medical Genetics National centre for Medical Genetics Our Lady's Hospital Crumlin Dublin 12 Ireland ********** 6) Neuroacanthocytosis PATIENT REQUEST. PLEASE REPLY TO HUM-MOLGEN Apparent patient location: USA I am a close friend of a 79 year old individual who was diagnosed with neuroacanthocytosis about 7 years ago. He has recently been rediagnosed with it at Emery in Atlanta, Georgia, (USA). I'm looking for any kind of help or alternative sources that might be helpful in making him feel more comfortable if it's impossible to cure. Please help !!! Thank you. ************************************************************************ HUM-MOLGEN - Internet Communication Forumin Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-5664598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ---------------------------------------------------------------------------- --------------- >"copyright HUM-MOLGEN"