Department of Pediatrics Biannual Report 2008-2009

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20 • Department of Pediatrics GENETICS FACULTY Robert Roger Lebel, MD, FACMG, Chief, Section Medical Genetics, Professor of Pediatrics, Internal Medicine, Ob/ Gyn & Pathology, Lecturer in Bioethics & Humanities Joan Pellegrino, MD, FAAP, FACMG, Associate Professor of Pediatrics Adjunct Faculty: Constance Stein, PhD, Director Cytogenetics Laboratory; Professor, Pathology Antony Shrimpton, PhD, Director, Molecular Diagnostic Laboratory; Associate Professor, Pathology AFFILIATED CLINICAL STAFF: Bonnie R. Braddock, MPH, CGC, Senior Certified Genetic Counselor Ryan T. Miller, MS, CGC, Certified Genetic Counselor CLINICAL OVERVIEW The section of Medical Genetics provides high quality and comprehensive clinical genetics services, including screening, diagnosis, treatment, counseling and preventive services to the 11 counties defined as Health Services Area 3 (HSA3) and to several other surrounding counties. Medical Genetics provides genetic evaluation and genetic counseling services for a wide range of neonatal, pediatric and adult onset indications. The Medical Genetics staff of clinical geneticists and genetic counselors work in a team approach to providing services. The program includes general genetic evaluation clinics, Inherited Metabolic Disease Specialty Center (IMD), inpatient genetic evaluation consultations, cancer and general genetic counseling, and genetic counseling within various specialty clinics at Upstate, including in conjunction with the Multidisciplinary Breast Cancer Program, the cystic fibrosis newborn screening program and craniofacial clinic. Medical Genetics also provides outreach genetic evaluation services at satellite clinics in Watertown and Binghamton. Medical Genetics is staffed by clinical geneticists, Robert Roger Lebel, MD, FACMG, and Joan Pellegrino, MD, FAAP, FACMG, and two full time board certified genetic counselors, Bonnie R. Braddock, MPH, CGC, and Ryan T. Miller, MS, CGC. Dr. Lebel arrived as new section chief in July 2008, and has interacted extensively with the extended Pediatrics department as well as other sectors of the medical university. As such, he supervises the activities of the genetic counselors and administers the section. He has seen over 700 new patients since arriving, and has had the opportunity to make diagnoses of a number of very rare syndromes, and also to lead the group in proposing a syndrome “new” to the medical literature. The lengthy waiting list which had grown during the interim has been reduced to manageable length and the satellite clinics in Watertown and Binghamton were re-established after Dr. Lebel arrived. Dr. Joan Pellegrino manages the Inherited Metabolic Diseases Specialty Center (IMD), which has continued to grow. The center is staffed by a dedicated nurse practitioner, registered nurse, dietician, social worker, genetic counselor and geneticist. The IMD evaluates infants with abnormal newborn screens or suspected metabolic disorders and manages those individuals with a known inborn error of metabolism. In 2008, 144 patients were seen and, in 2009, 179 patients have been seen. The Center has also had an increase in the number of abnormal newborn screening patients sent in for evaluation. In the year 2009 alone, 9 newborns with PKU were identified and treated. The IMD is actively involved with the other Metabolic centers in the state. Ryan T. Miller, MS, CGC, works closely with Dr. Pellegrino in the IMD. He also works closely with the Craniofacial Clinic and the Pediatric Pulmonary section providing genetic counseling input at their locations. Bonnie R. Braddock, MPH, CGC, provides genetic counseling for the inherited cancer risk services, which has continued to grow over the last several years. In 2008 and 2009, a total of 386 patients were seen for cancer genetic counseling. Medical Genetics coordinates the monthly Genetics Professional Review Group meeting at Upstate. Attendees include a range of clinical- and research-based genetics professionals and students throughout various departments at Upstate. The goals of the meetings are to foster collaboration of cases and research opportunities and to provide in-house educational opportunities. RESEARCH HIGHLIGHTS The IMD participates with the Lysosomal Storage Registry sponsored by Genzyme and has IRB approval to participate in studies on Gaucher, Fabry, Pompe and MPS1 diseases. Patients are enrolled into long term follow-up studies after being identified on newborn screen to have an increased risk for Krabbe disease. Dr. Lebel’s research interests include syndrome identification and ethical issues in genetics. Dr. Stein’s research interests include investigation of chromosomal fragile sites, cytogenetic and molecular characterization of malignant tumors, chromosome imprinting. Dr. Shrimpton has research interest in sequencing Neuroserpin in patients with autism.
Bi-Annual Report • 21 PUBLICATIONS Vajpayee N, Stein CK, Poiesz B, Hutchison R. Case of the Quarter - February 2008: Extramedullary Blast Transformation of CML at Initial Presentation. www. socforheme.org/case-feb-08.htm. 2008. Narendra S, Tull J, Muscolino D, Stein CK, Zhang S. Detection of DDIT3(CHOP) Gene Break-Apart by Fluorescence in Situ Hybridization (FISH) in Formalin Fixed Paraffin Embedded Myxoid/Round Cell Liposarcoma. Abstract, presented at a meeting, 2008. Riccardi GF, Stein CK, de la Roza G, Damron TA. Newly described translocation, t(18;19)(q23;q13.3) in abdominal wall soft tissue tumor resembling Ewing sarcoma/ Peripheral Neuroectodermal Tumor. (accepted pending modification by Cancer Genetics and Cytogenetics). Lebel RR, Spranger JW. Chance favors the prepared mind: A brief moral biography of Gregor Johann Mendel (7/22/1822-1/6/1884). Proc Greenwood Genet Center 27:3- 5, 2008. Lebel RR, Logrieco GP. First report of Majewski-type short limbed polydactyly. Proc Greenwood Genet Center 27:6-7, 2008. Stallworth LJ, Avery J, DuPont BR, Lebel RR. Partial trisomy 2p and partial monosomy 9p in a fetus with anencephaly, polydactyly, and other abnormalities. Proc Greenwood Genet Center 27:18-21, 2008. Lebel RR, Collins JS, Avery JM, Logrieco GP, Broome PJ. Perinatal autopsy: prenatal growth in trisomy 21. Proc Greenwood Genet Center 27:22-24, 2008. Lebel RR, Jones JR, Pridgen C, Gregg AR, Avery JM, Broome PJ, Friez MJ. Monosomy X proven (confirming clinical suspicion) in a fetus from which cells failed to grow in tissue culture: novel application of “multiplex ligation-dependent probe amplification” (MLPA), Proc Greenwood Genet Center 27:42-44, 2008. Lebel RR, Avery JM, Broome PJ, Gregg AR, Alan C, Mostafa M. Fetal peritonitis due to appendiceal rupture: a rare complication of hydrops. Fetal Pediatr Pathol 27(3):121-125, 2008. Lebel RR. The Language of God (Collins). Proc Greenwood Genet Center 27:45-47, 2008. Gopaluni S, Perzova R, Abbott L, Farah R, Shrimpton A, Hutchison R, Poiesz BJ. CD8+ Cutaneous T-cell lymphoma successfully treated with Bexarotene: a case report and review of the literature. American Journal of Hematology. 83(9):744-6, 2008. Mehra A, Tull J, Shrimpton AE, dela Rosa G, Valente A, Zhang S. Detection of FKHR (FOX01) gene break-apart by Fluorescence in situ hybridization (FISH) in formalin fixed paraffin embedded Alveolar Rhabdomyosarcomas. Diagnostic Molecular Pathology, 17(1): 14-20, 2008. Shrimpton AE, Levinsohn EM. HOXD10 and congenital vertical talus. Chapter 71 “Inborn errors of development” Second Edition. Ed Epstein CJ, Erickson RP, Wynshaw- Boris A. Oxford University Press NY, 2008, pp 682-688. Lebel RR, Avery JM, Broome PJ, Collins JS. Prenatal diagnostic accuracy in South Carolina, demonstrated by autopsy. Fetal Pediatr Pathol 28(6):253-261, 2009. Barker SD, Bale S, Buller A, Das S, Friedman K, Godwin AK, Grody W, Highsmith E, Kant J, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Roa B, Schrijver I, Shrimpton AE*, Hoopes RR*, Knohl SJ, Hueber P, Scheinman SJ. OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability. Nephron Physiology 112:27-36, 2009. Shrimpton A, Kessler J, Bassuk AG. Variability of Epilepsy, Autism, Brachydactyly, and Other Clinical Features in Familial and Sporadic 2q37.3 Deletion. J Ped Neurol. 7:1-5, 2009. Shrimpton AE, Spector E, Telatar M, Weck K, Zehnbauer B, Booker J, Kalmanet LV, al. Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing Accepted The Journal of Molecular Diagnostics. #JMD09- 0078 accepted. Duffner PK, Caggana M, Orsini JJ, Wegner DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold, GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukie A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP, Newborn Screening of Krabbe Disease: the New York State Model. Pediatr Neurol 40:245-252, 2009. PRESENTATIONS AT SCIENTIFIC MEETINGS Lebel R, Seaver L, Gregg A, Edwards J, Salley M, Avery J, Broome P, Stevenson R. Prenatal phenotypic variation in Ellis-van Creveld syndrome. Am J Hum Genet 83:(Suppl):161, Abstract #692, 2008. Miller RT, Barkan HI, Lebel RR. MECP2 duplication found by microarray study in a man with developmental regression. Genet Med 11 (Suppl.):151, Abstract #216, 2009. Lebel RR, Miller, RT, Havernick NJ, Dosa NP, Braddock BR, Smith FC, Shprintzen RJ. Cardio-renal-epilepsydigital-oculo (CREDO) syndrome: a “new” syndrome of developmental-delays and multiple-malformations. Am J Hum Genet 85(Suppl):206, Abstract #2600, 2009. Arnold GL, Galvin-Parton PA, Erbe R, DeVincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Saavedra-Matiz CA, Nichols TJ. Genotype- Metabolite Correlations and Outcome in MCAD Deficiency Diagnosed by Newborn Screening in New York State. Abstract 137, Platform presentation, Society of Inherited Metabolis Diseases meeting, San Diego, CA, September 2009
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Department of Pediatrics Biannual Report 2008-2009

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