HUM-MOLGEN archive: DIAG: 7 messages/ 3 PT Req.

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 7 submessage(s), 3 patient requests: 1. Leber Hereditary Optic Neuropathy 2. misshaped chromosone 9/PT Req 3. Camurati-Engelmann disease 4. Pedidial oedema in a 28 wk old fetus 5. undiagnosed leukodystrophy/PT Req. 6. adrenoleukodystrophy/PT Req. 7. Chronic MyeloMonocytic Leukemia (CMML) Carlo Gambacorti MD, Editor, Agnes Tay, MD PhD, Asst Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section "copyright HUM-MOLGEN" ====================================================== Dear Colleagues: I have received a request for molecular diagnostic testing for Leber Hereditary Optic Neuropathy. It is my understanding that this disorder is caused by mutations in the mitochondrial genome, and that there are a few major mutations which one intially analyzes for. I would greatly appreciate if anyone testing for this disorder who would be willing to accept a patient referral would contact me. Karl V. Voelkerding M.D. Medical Director of Molecular Diagnostics Department of Pathology and Laboratory Medicine University of Wisconsin Hospital and Clinics 600 Highland Avenue Madison, Wisconsin 53792-2472 Office (608) 263-8368 Fax (608) 263-1568 email: k.voelkerding@hosp.wisc.edu ====================================================== Sirs, Do you have info on misshaped chromosone 9 in unborn fetus at l9th week of gestation. The mother had the fifth disease early in her pregancy and the baby has the parvo virus, fluid in heart and abdomen,and misshaped chromosone 9. PLEASE REPLY DIRECTLY TO HUM-MOLGEN Apparent Pt location: US ====================================================== A 31-year-old patient affected by Progressive Diaphyseal Dysplasia (Camurati-Engelmann disease) asked me, as medical geneticist, about the present state-of-the art of our knowledge on the molecular genetics of this disease. In particular, he and his relatives (there are at least two other affected relatives) are willing to send their blood to a laboratory involved in the mapping the PDD gene. He would like to have a baby and is looking for a prenatal test. I would be very glad to know who is presently working on the genomic mapping of Camurati-Engelmann disease. Nicola Migone Associate prof. of Medical Genetics, Dipartimento di Genetica, Biologia e Chimica Medica, Universit` di Torino, Via Santena 19 10126 Torino, Italy fax: +39-11-674040. ====================================================== Hi everybody, We need assistance in counselling a woman who is 28 weeks pregnant. At 22 weeks of gestation routine sonography showed edema of one foot. Kariotype was 46,XY. Level 2 sonography and echo-cardiography were normal. At 27 weeks edema extended to the other foot. The parents are normal and the family history is normal. We will appreciate your assistance in diagnosis or referral to specialized lists. Moshe Frydman MD Genetics Institute Sheba Medical Center Tel-Hashomer Israel mfrydman@post.tau.ac.il Fax 972-3-5302826 Phone 972-3-5302826 ====================================================== I want to say thanks for reading the below information and any help or advise you could provide us would be most helpful as we have been living in fear for over the last five months. My husband is 40 years of age and has been told he has a form of undiagnosed leukodystrophy. CT SCAN OF THE BRIAN WITHOUT AND WITH CONTRAST 11/22/96 Pre contrast scan demonstrates extensive areas of low density involving the cerebral white matter bilaterally. Some low density of the basal ganglia is also noted symmetrically. Posterior fossa structures appear normal. Presently he is back to work full time and has been taking sansert for his headaches which helps. We have seen other doctors who are puzzled on why he looks good when defiantly the results of the MRI are so abnormal. I myself who is 38 years of age am trying to research as much as possible for our family. My husband has been very snappy and living with this stress is hard. WE have two daughter ages 9 and 13 and its scary to think this might be genetic or even to know that they might not have a dad in 10 years time. Any help you can give us would be most appreciated. As we were told if we could find out what this it we could hopefully slow down the progression. PLEASE REPLY DIRECTLY TO HUM-MOLGEN or contact our neurologist is Dr. Hummer at 512-458-6121 He is very supportive of any ideas in my husbands conditions. Apparent Pt location: US ====================================================== > Sir, > > My name is xxxxxxx of xxxxx, Colorado. My two brothers have > adrenomyeloneuropathy. They are currently near, ( what I am deeming as > the final stages), of this terrible disease. I stumbled across your site > and have been impressed with the in depth discussion of similar > diseases. > Dr's. M. Vorgerd, S. Fuchs, M. Tegenthoff, and J.P. Malin wrote a paper, > published by this site related to adrenoleukodystrophy. Their combined > knowledge is of great interest to me and my family members. I am curious > to know if these individuals have other published articles. > > Additionally, I am interested in knowing if other members of this forum > are aware of the tragic effects of this "Bloody" disease ! > The individuals of this forum appear to be at the > fore-front of mutiple areas of medical investigation and resolution. > > Can you or other individuals of this forum provide me with a direction > offering "promising" results ? PLEASE REPLY DIRECTLY TO HUM-MOLGEN Apparent Pt location: US ====================================================== Dear colleague, we are investigating the molecular nature and possible new treatment modalities for Chronic MyeloMonocytic Leukemia (CMML). As you probably know, some CMML patients harbor an hybrid TEL/PDGFR gene in their leukemic cells. We have identified from the fusion region of TEL/PDGFR (as well as from other fusions) several peptides containing Class I binding motifs for common HLA specificities. Our plan is to analyze their binding ability using several HLA transfectants, and then to use them in vitro to induce a T-cell specific response. As a parallel study we are using several small molecules able to inhibit the kinase activity of ABL and PDGFR. We developed an assay to evaluate the activity of these compounds on fresh leukemic cells, without the need for using growth factors or clonogenic assays. CMML however is a rare disease and such a study can be successfull only if samples can be obtained from several centers. We therefore ask your collaboration in sending us samples from untreated CMML patients. Frozen cells obtained from the peripheral blood or the bone marrow (minimum 40 x 10E6) would be ideal. Alternatively, a 30 ml peripheral blood or a (5 ml) BM sample (collected in a sterile, heparinized tube and stored at 4 C° for no longer than 24-48 hours) could be used. I Thank you in advance for your help and cooperation. Sincerely, Carlo Gambacorti-Passerini MD Senior Investigator Istituto Nazionale Tumori - OSD Via Venezian 1 20133 Milano - Italy Tel +39.2.239-0818 Fax +39.2.239-0764 E-mail GAMBACORTI@ICIL64.CILEA.IT ====================================================== "copyright 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/ --------------------------------------------------------------- Carlo Gambacorti-Passerini MD Senior Investigator Istituto Nazionale Tumori - OSD Via Venezian 1 20133 Milano - Italy Tel +39.2.239-0818 Fax +39.2.239-0764 E-mail GAMBACORTI@ICIL64.CILEA.IT