Acute health events in adult patients with genetic disorders: The Marshfield Epidemiologic Study Area

Genetics in Medicine

Volumn 8, Issue 8, 2006, Pages 474-490

  Giampietro, Philip F ^a   Greenlee, Robert T ^a   McPherson, Elizabeth ^a   Benetti, Lorelle L ^a   Berg, Richard L ^a   Wagner, Stephen F ^a  

^a MARSHFIELD CLINIC   (United States)

Author keywords

Adult genetic disease; Education; Long term follow up data; MESA population; Natural history

Indexed keywords

ACHONDROPLASIA; ALPORT SYNDROME; ALSTROM SYNDROME; ANGIOOSTEOHYPERTROPHY SYNDROME; ARNOLD CHIARI MALFORMATION; ARTICLE; BASAL CELL NEVUS SYNDROME; BILE DUCT ATRESIA; CHROMOSOME DELETION; COHORT ANALYSIS; CONNECTIVE TISSUE DISEASE; CUTIS LAXA; DOWN SYNDROME; DUPUYTREN CONTRACTURE; EHLERS DANLOS SYNDROME; GENETIC DISORDER; GENODERMATOSIS; HAPPY PUPPET SYNDROME; HEALTH CARE FINANCING; HEALTH CARE NEED; HEALTH STATUS; HEMATOLOGIC DISEASE; HEMOCHROMATOSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HIRSCHSPRUNG DISEASE; HOLT ORAM SYNDROME; HUMAN; HUNTINGTON CHOREA; INCONTINENTIA PIGMENTI; KEARNS SAYRE SYNDROME; KIDNEY POLYCYSTIC DISEASE; KLINEFELTER SYNDROME; KLIPPEL FEIL SYNDROME; LIMB GIRDLE MUSCULAR DYSTROPHY; LONG QT SYNDROME; MARFAN SYNDROME; MUSCULAR DYSTROPHY; OSSIFYING MYOSITIS; PATIENT CARE; PENDRED SYNDROME; PHYSICIAN; PRADER WILLI SYNDROME; PRIMARY MEDICAL CARE; PSEUDOXANTHOMA ELASTICUM; SPINA BIFIDA; SYRINGOMYELIA; THOMSEN DISEASE; TURNER SYNDROME; VALIDATION PROCESS; VELOCARDIOFACIAL SYNDROME; VON HIPPEL LINDAU DISEASE; WILLIAMS BEUREN SYNDROME; XX MALE;

ACUTE DISEASE; ADULT; COHORT STUDIES; EMERGENCY MEDICAL SERVICES; FEMALE; GENETIC DISEASES, INBORN; HUMANS; MALE; PRIMARY HEALTH CARE; RISK FACTORS; WISCONSIN;

EID: 33747270044     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000232479.90268.40     Document Type: Article

References (26)

1. Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Nature and frequency of genetic disease. In: Emery and Rimoin's principles and practice of medical genetics. Vol 1. 4th ed. Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. New York: Churchill Livingstone;2002:55-59.
2. Childs B, Miller S, Bearn A. Gene mutations as a cause of human disease. In: Sutton HE, Harris MI, editors. Mutagenic effects of environmental contaminants. New York: Academic Press; 1972:3-14.
3. Day N, Holmes LB. The incidence of genetic disease in a University hospital population. Am J Hum Genet 1973;25:237-246.
4. Scriver CR, Neal JL, Saginur R, Clow A. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J 1973;108:1111-1115.
5. Hall JG, Powers EK, Mcllvaine RT, Ean VH. The frequency and financial burden of genetic disease in a pediatric hospital. Am J Med Genet 1978;1:417-436.
6. FitzPatrick DR, Skeoch CH, Tolmie JL. Genetic aspects of admissions to a paediatric intensive care unit. Arch Dis Child 1991;66:639-641.
7. Yoon PW, Olney RS, Khoury MJ, Sappenfield WM, et al. Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study. Arch Pediatr Adolesc Med 1997;151:1096-1103.
8. Hall JG. The impact of birth defects and genetic diseases. Arch Pediatr Adolesc Med 1997;151:1082-1083.
9. McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet 2004;74:121-127.
10. Kumar P, Radhakrishnan J, Chowdhary MA, Giampietro PF. Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department. Mayo Clin Proc 2001;76:777-783.
11. DeStefano F, Eaker ED, Broste SK, Nordstrom DL, et al. Epidemiologic research in an integrated regional medical care system: the Marshfield Epidemiologic Study Area. J Clin Epidemiol 1996;49:643-652.
12. Greenlee RT. Measuring disease frequency in the Marshfield Epidemiologic Study Area (MESA). Clin Med Res 2003;1:273-280.
13. Jones KL. Smith's recognizable patterns of human malformation. 6th ed. Philadelphia, PA: WB Saunders Co; 2006.
14. th ed. New York: McGraw-Hill; 2001.
15. OMIM™Online Mendelian Inheritance in Man. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM. Accessed on January 15, 2006.
16. University of Washington, Seattle. GeneTests. Located at: http://www.genetests.org/. Accessed on January 15, 2006.
17. Robinson A, Bender BG, Linden MG. Summary of clinical findings in children and young adults with sex chromosome anomalies. Birth Defects Orig Artic Ser 1990;26:225-228.
18. Meeus G, Steyaert J, Fryns JP. A follow-up study on 12 prenatally diagnosed boys with Klinefelter syndrome. Genet Couns 2005;16:249-256.
19. Ugazio AG, Maccario R, Notarangelo LD, Burgio GR. Immunology of Down syndrome: a review. Am J Med Genet Suppl 1990;7:204-212.
20. Garrison MM, Jeffries H, Christakis DA. Risk of death for children with Down syndrome and sepsis. J Pediatr 2005;147:748-752.
21. van Allen MI, Fung J, Jurenka SB. Health care concerns and guidelines for adults with Down syndrome. Am J Med Genet 1999;89:100-110.
22. Riley TR, Schoen RE, Lee RG, Rakela J. A case series of transplant recipients who despite immunosuppression developed inflammatory bowel disease. Am J Gastroenterol 1997;92 (2):279-282.
23. Kornprat P, Cerwenka H, Bacher H, El-Shabrawi A, et al. Surgical therapy options in polycystic liver disease. Wien Klin Wochenschr. 2005;117:215-218.
24. Pinto MA, Juliano RV, Tobias-Machado M, Borrelli M, et al. Hand-assisted bilateral nephrectomy in a patient with adult polycystic kidney disease. Sao Paulo Med J 2002;120:189-191.
25. Gatalica Z, Schwarting R, Petersen RO. Renal cell carcinoma in the presence of adult polycystic kidney disease. Urology 1994;43:102-105.
26. Acheson LS, Stange KC, Zyzanski S. Clinical genetics issues encountered by family physicians. Genet Med 2005;7:501-508.