HUM-MOLGEN archive: DIAG: 5 messages/2 PT req.

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 5 submessage(s): 1) Wolf-Hirschhorn Syndrome (WHS) and Pitt-Rogers-Danks Syndrome (PRDS) 2) multicore myopathy/ PT Req. 3) long QT syndrome genotyping 4) Hunter Syndrome/ PT Req. 5) THIS IS AN ONCOLOGIC EMERGENCY Carlo Gambacorti MD, Editor, Human Molecular Genetics Network Diagnostics/Clinical Research Section "copyright HUM-MOLGEN" ************************************************************** ************************************************************** Dear Sir, dear madam, I am working in the field of 4p- syndromes, especially Wolf-Hirschhorn Syndrome (WHS) and Pitt-Rogers-Danks Syndrome (PRDS) to delineate the critical gene region of these syndromes. For both syndromes the patients have characteristic facial anomalies like widely spaced eyes, low set ears and a cleft lip/palate. They always are mentally retarded due to brain malformation, microcephaly and severe pre- and postnatal growth retardation. Both syndromes are caused by subtelomeric deletions of 4p16.3. I am looking for patient material of patients with either no deletion (not visible with the common cytogenetic methods) with a WHS or PRDS phenotype, WHS/PRDS patients with small deletions, but also patients with a WHS/PRDS phenotype due to an unbalanced (or balanced) translocation where one of the breakpoints could be (likely) inbetween the critical gene region of WHS/PRDS. Thank you very much. Please contact: Ingrid Stec, Anthropogenetica Sylvius Laboratory Wassenaarseweg 72 2333 AL Leiden NIEDERLANDE e-mail: ingrid@ruly46.medfac.leidenuniv.nl ************************************************************** I have been diagnosed with multicore myopathy and would be very interested in any information you could provide. Thank you for your kind assistance. Apparent patient location: Canada PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK ************************************************************** I am a cardiologist involved in long QT syndrome genotyping, I would like to share data and experience with other investigators involved in this disease. I am also looking for the restriction enzyme BceFI (acggc 12/13) to confirma a de novo mutation on hERG in a sporadic case of LQTS. In Italy I haven't been able to find a company selling this enzyme . Can anyone help? Silvia G Priori, MD, PhD University of Milan silvia.priori@netitalia.it ************************************************************** I found access to your site through the help of the editor of the genetic weekly. I am just beginning to use your site to search for specific information, especially research and live clinical trials worldwide, regarding Hunter Syndrome or mucopolysaccharidosis lacking the enzyme iduronate 2 sulfatase. A friend of mine has a 3 year old son that has just been diagnosed with Hunters syndrome severe. To date his symptoms are mild with hearing loss, limited speech, enlarged liver, clawed hands, and upper respiratory noise. I would like any information about outcomes of clinical trials and the ability to participate in upcoming experiments. I would like to know who is really on the ball conducting research in this area. I understand the treatment at this time is supportive only, but the genetic and enzyme replacement therapies are moving so rapidly there is hope. I have 15 years experience in the medical field. All the help you can give would be greatly appreciated! Brenda Apparent patient location: Europe PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK ************************************************************** Date: Sun, 03 Nov 1996 10:51:45 +0000 We have a 27-year-old male patient with acute lymphoblastic leukemia B in complete remission. The patient received 3 g/m2 (for 2.16 m2) of methotrexate 67 hours ago. The patient developed an acute renal failure (creatinine 3.8 mg/dl), possibly due to the previous administration of amphotericin-B and other nephrotoxic drugs, in spite of receiving hyperhydratation (3 l/m2/d¥a), including bicarbonate. At the present the creatinine has dropped to 3.1 mg/dl, but the methotrexate levels (67 hours after the beginning of the methotrexate infusion) are of 28 microMol/L (!!). The patient is receiving the same hyperhydratation, plasmapheresis (a session with poor results), charcoal hemoperfusion (two sessions) and a dose of citrovorum factor (folinic acid) of 1000 mg/m2/3h from the 36 hours (in that moment the patient had methotrexate level of 126 in his serum). We have tried to obtain the enzyme CARBOXYPEPTIDASE G2, but without results. Apparently a dose of 50 U/kg (for 85 kg) has spectacular effects and it can repeat at the six hours. Would somebody send us this product ASAP? Anybody has another idea? Please, reply us as soon as possible. Sincerely Fax: 34-22-66-22-45 ====================================================== Miguel T. Hernandez-Garcia, MD mthernandez@jet.es - mthernandez@ull.es Internal Medicine/Hematology Department Hosp. Universit. de Canarias. University of La Laguna Tenerife SPAIN ====================================================== obtained through HEMATOLOGY Physicians Discussion <HEM-DR@SJUVM.STJOHNS.EDU> ************************************************************** "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/ Phone: 020-566 4598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ---------------------------------------------------------------