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Min Ae Lee: HUM-MOLGEN/DIAG: 5 submessage(s) and 4 patient requests | ||||||||||||||||
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To: HUM-MOLGEN@NIC.SURFNET.NL Subject: HUM-MOLGEN/DIAG: 5 submessage(s) and 4 patient requests From: Min Ae Lee <mal@calvin.bwh.harvard.edu> Date: Sun, 24 Aug 1997 16:34:35 -0500 **************************************************** HUM-MOLGEN DIAGnostics/Clinical Research **************************************************** This DIAG message contains 5 submessage(s) and 4 patient requests: 1) Noonan syndrome (II, IV) 2) Polymorphisms of olfactory receptors (IV) 3) Schimke immunoosseous dysplasia (IV) 4) Dust-related mucormycosis (IV) 5) Alstrvm disease (IV) 6) Genetic aspects of suicide (pt request, III) 7) Lymphangiomatosis pulmonum (pt request, III) 8) Adrenomyeloneuropathy (pt request, III) 9) Kartagener syndrome (pt request, III) Carlo Gambacorti, MD, Editor, Min Ae Lee, MD, Assistant Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************** ***************************************************** 1) Noonan syndrome Dear editors, re: Association between Noonan syndrome and multiple cutaneous granular cell myoblastoma (Abrikosoff tumor). Some time ago, a boy with Noonan syndrome was referred to us. Recently, at age of six years, he develops multiple skin tumors. On histophathologic examination, all of them were diagnosed as cutaneous granular cell myoblastomas (Abrikosoff tumors). Lymphocyte chromosomes are normal. As the tumors were small, it was not possible to obtain viable or fresh frozen tumor material. Does anyone know about an association of Noonan syndrome and multiple Abrikosoff tumors? ------------------------------------------------------------------ Dr. Dietmar Lohmann DR.Lohmann@uni-essen.de Institut fuer Humangenetik Hufelandstr. 55, Tel (49)201-723 4562 D-45122 Essen, Germany FAX (49)201-723 5900 ------------------------------------------------------------------ ***************************************************** 2) Polymorphisms of olfactory receptors Hello I am working in polymorphism of Olfactory Receptors. I would like to know whether there is a good update review in human polymorphism. Thank you in advance Francis Kalush Francis Kalush, PhD. Department of Membrane Research and Biophysics The Weizmann Institute of Science. Rehovot. Israel E.Mail: LIKALUSH@WEIZMANN.WEIZMANN.AC.IL Tel: 972-8-9343687, FAX:972-8-9344112. ***************************************************** 3) Schimke immunoosseous dysplasia Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondylo epiphyseal dysplasia which is characterized by (1) disproportionate short stature, (2) progressive steroid resistant nephrotic syndrome, (3) cellular immunodeficiency, (4) vascular disease (arteriosclerosis, cerebral ischemic events), and (5) hyperpig- mented macules. The onset of growth failure is usually within the first 5 years of life. Renal dysfunction is usually noted within a year of the onset of growth failure. The severity of the immunodeficiency and vascular disease are quite variable. We are studying SID with the objectives of (1) further defining the clinical course and phenotype of SID, (2) identifying the genetic basis of SID, (3) delineating the pathophysiology of SID, and (4) identifying effective therapies. In order to pursue these objectives, we are searching for more SID families and are happy to collaborate with other groups who are aware of SID families. Please contact: Cornelius Boerkoel Division of Clinical Genetics Hospital for Sick Children 555 University Ave. Toronto, Ontario M5G 1X8 Canada Ph. 416-813-5338 FAX 416-813-5345 email: boerkoel@sickkids.on.ca ***************************************************** 4) Dust-related mucormycosis Dear Sirs, This request is rather urgent. I'm looking for documented cases of mucormycosis produced by dust due to constructions in hospitals. Thank you in advance, John Sourdis Genetics Dept Agr Univ of Athens 75 Iera Odos Athens 11855, Greece phone +30 1 5294 376 , +30 94 541 839 ***************************************************** 5) Alstrvm Syndrome Alstrvm Syndrome is a rare autosomal recessive disorder characterized by pigmentary retinal degeneration begining in infancy, sensorineural hearing loss, childhood obesity, non-insulin dependent diabetes mellitus, hyperlipidemia, and chronic nephropathy. Features occasionally observed include acanthosis nigricans, hypogonadism, hypothyroidism, alopecia, shortstature, hepatic dysfunction, and dilated cardiomyopathy. Researchers at The Jackson Laboratory are investigating Alstrvm Syndrome. We have localized the gene to a small region on chromosome 2p. We are very interested in identifying more families with children (living or deceased) diagnosed with Alstrvm Syndrome in order to continue our efforts to identify the gene. Interested individuals should contact Jan D. Marshall Genetics Coordinator Alstrvm Syndrome Family Study The Jackson Laboratory 600 Main Street Bar Harbor, Maine USA 04609 phone: 1-800-371-3628 Fax: [207] 288-6078 e-mail: jdm@aretha.jax.org ***************************************************** 6) Genetic aspects of suicide Apparent location: Germany Pt request - please reply directly to Hum-Molgen ! I would like info about suicide and families. I am doing a particular study on a family with 5 siblings, and 3 have taken there lives. Anything you have would be very helpful. I am searching for answers about genetics links. Thank You, ***************************************************** 7) Lymphangiomathosis pulmonum Apparent location: Yugoslavia Pt request - please reply directly to Hum-Molgen ! Dear friends, I have a friend (female, 45 years old) suffering from rare condition called Lymphangiomathosis pulmonum. Her diagnosis was set up 5 years ago in Paris, France. She lives in Yugoslavia, so we are not sure if she is getting a proper medical care or at least medical advice here. On the Internet there is no single mention of this disorder, so I thought that this is the only place where she could find some information on this disease. Also, she was told that the only way for treating this condition would be the lung transplantation operation. Does anyone knows were this kind of operation could be done? Any information or suggestion will be greatly appreciated. Thank you, ***************************************************** 8) Adrenomyeloneuropathy Apparent location: Belgium Pt request - please reply directly to Hum-Molgen ! Can i get information about my desease or is this site just for doctoers a'm a Belgian patient and want also to know who can help me in Belgium or in Europe. Thanks for answering me ***************************************************** 9) Kartagener syndrome Apparent location: USA Pt request - please reply directly to Hum-Molgen ! Hello, My son his 8 yrs old and has Kartagener Syndrome, I would like to know if you have any information that would help me to understand this syndrome more. I have read about some people having to have lung transplants, I dont want that to happen to my son. If you can help , Please email me back. Thank You, ***************************************************** 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" Min Ae Lee, M.D. Cardiovascular Division Department of Medicine Brigham and Women's Hospital Thorn 1103 75 Francis Street Boston, MA 02115 tel: 617-732 8174 fax: 617-264 6830 email: mal@calvin.bwh.harvard.edu
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