HUM-MOLGEN archive: DIAG: 4 MESSAGES/3 PT REQ.

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** The following messages have been submitted to the DIAG Section of HUM-MOLGEN. Replies to Patient Requests should be sent directly to HUM-MOLGEN. All other replies can be sent to the originators of the messages. These messages are also posted at our Website (http://www.informatik.uni-rostock.de/HUM-MOLGEN/). This DIAG message contains 4 submessages: 1) Foix-Chavany-Marie syndrome (FCMS) 2) Machado-Joseph Disease/PT Request 3) Chromosome 3p deletion/PT Request 4) Small cell ca lung and scleroderma/PT Request Carlo Gambacorti MD, Editor, Agnes Tay MD, Asst. Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section -------------------------------------------------------------------------- 1. Subject: Foix-Chavany-Marie syndrome (FCMS) Reply to: savarirayr@wch.sa.gov.au (Dr Ravi Savarirayan) Dear All, Does anyone have information pertaining to this syndrome, seen recently by a colleague? References or groups with an interest/information concerning the disorder would be great. The clinical terminology is: Foix-Chavany-Marie syndrome (FCMS) = faciopharyngoglossomasticatory diplegia (at a neuropathology meeting this was called " bilateral opercular polymicrogyria"). Many thanks and seasons greetings. Ravi Savarirayan M.D. Fellow in Clinical Genetics South Australian Clinical Genetics Service e-mail savarirayr@wch.sa.gov.au --------------------------------------------------------------------------- 2. Subject: Machado-Joseph Disease/PT Request Apparent Patient Location: United States I'm trying to find out about research on Machado-Joseph Disease. My family has been affected and I'm in the process of forming a non-profit corporation in California to fund MJD research. Please send information about your project and or how I might help you. Thank you. REPLY DIRECTLY TO HUM-MOLGEN --------------------------------------------------------------------------- 3. Subject: chromosome 3p deletion/PT Request Apparent Patient Location: United States I am seeking anyone who has, had, or known a child with a deleted #3p Chromosome or anyone who is doing research into this particular chromosome. REPLY DIRECTLY TO HUM-MOLGEN -------------------------------------------------------------------------------- 4. Subject: Radiotherapy for Small Cell Ca in Patient with Scleroderma? Apparent Patient Location: Canada Patient affected by Raynaud Disease and Scleroderma and has Interstitial Lung Disease on right lung. In October of 1996, discovered that she had Small Cell Lung Cancer. The cancer is concentrated in the right lung. Brain scan, bone scan, and ultrasound of lower organs were all negative. Chemotherapy with CAV (cyclophosphamide, adramycin, and oncovin) has been given, planned to alternate with next therapy which will be on Jan.13,1997 -- EP for 3 days (VP16-cisplatinum). On this date she was supposed to start radiation therapy for 3 weeks. However, the radiation oncologist felt that it would have been too much for her due to the existing damage caused by the scleroderma, and that the side effects would have been too strong. Does anyone have any info, experience, and/or documentation of side effects from someone with the same conditions (ie- any patients who have scleroderma and small cell lung cancer who have received both chemo and radiation)? REPLY DIRECTLY TO HUM-MOLGEN ---------------------------------------------------------------------------- ************************************************************** ************************************************************** HUM-MOLGEN - Internet Communication Forum in Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-566 4598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) --------------------------------------------------------------- "copyright HUM-MOLGEN"