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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Puerto Rico

 
 
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Disease relevance of Puerto Rico

 

Psychiatry related information on Puerto Rico

 

High impact information on Puerto Rico

  • The homozygous, disease-causing mutation is a large deletion and represents the second example of a founder mutation causing HPS on the small island of Puerto Rico [7].
  • All identified affected patients in northwest Puerto Rico are homozygous for a 16-bp duplication in exon 15 of a recently cloned gene, HPS [8].
  • Precocious sexual development in Puerto Rico and oestrogenic mycotoxins (zearalenone) [9].
  • Restraint stress (RST) was used to activate the hypothalamic-pituitary-adrenal axis and elevate corticosterone (CORT) levels in influenza A/Puerto Rico/8/34 (PR8) virus-infected C57BL/6 mice [10].
  • When the aPTT was performed on any of the coagulometers assessed with the use of Actin (Dade Diagnostics, Aguada, Puerto Rico) and IL Test (Instrumentation Laboratories, Fisher Scientific, Unionville, Ontario) reagents, aPTT ratios necessary to achieve therapeutic anti--factor Xa heparin levels approximated 2.0 to 3 [11].
 

Chemical compound and disease context of Puerto Rico

 

Biological context of Puerto Rico

  • HPS occurs with a frequency of one in 1800 in north-west Puerto Rico due to a founder effect [7].
  • As reported elsewhere, we mapped the human HPS gene to chromosome segment 10q23, positionally cloned the gene, and identified three pathologic mutations of the gene, in patients from Puerto Rico, Japan, and Europe. Here, we describe mutation analysis of 44 unrelated Puerto Rican and 24 unrelated non-Puerto Rican HPS patients [16].
  • This finding is opposite to that reported for a population in Puerto Rico, where the ADH3(1-1) genotype seemed more sensitive to ethanol exposure [17].
  • The association between pulmonary obstruction (e.g., asthma) and occupational exposure to methyl cyanoacrylate (MCA) and ethyl cyanoacrylate (ECA) was examined in an occupational cohort of 450 persons at an adhesive production facility in Puerto Rico [18].
  • The survey was developed by the CF committee of the Genetics Network of the Empire State, Puerto Rico, and the U.S. Virgin Islands (GENES) to gauge changes in trends following the April, 1997, NIH Consensus Statement recommending the offering of CF carrier screening to all pregnant patients [12].
 

Associations of Puerto Rico with chemical compounds

  • Three hundred twenty-three of 473 questionnaires sent to hospital dietitians in 50 states and Puerto Rico concerning diet therapy for adult lactose malabsorption were returned and analyzed [19].
  • RESEARCH METHODS AND PROCEDURES: This study used the Behavioral Risk Factor Surveillance System, a state-based telephone survey of adults > or =18 years of age (N = 184,450) conducted in the 50 states, the District of Columbia, and Puerto Rico in 2000 [20].
  • An apparent inverse relationship between serum cholesterol and cancer mortality in Puerto Rico [21].
  • Two diterpenes, epipolone (1) and epipolol (3), produced by terpenoid pathways leading to a tricarbocyclic structure with an irregular "head to tail" isoprene configuration, have been isolated from the Caribbean marine sponge Epipolasis reiswigi collected in Puerto Rico [22].
  • On the other hand, Hispanics from Puerto Rico were more likely to have photosensitivity (81.5 vs 41.0%, P < 0.0001), malar rash (65.4 vs 45.7%, P = 0.0074) and discoid rash (13.6 vs 2.9%, P = 0.0060) [23].
 

Gene context of Puerto Rico

 

Analytical, diagnostic and therapeutic context of Puerto Rico

References

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  2. Abnormal blood glucose and coronary heart disease: the Puerto Rico Heart Health Program. Cruz-Vidal, M., Garcia-Palmieri, M.R., Costas, R., Sorlie, P.D., Havlik, R.J. Diabetes Care (1983) [Pubmed]
  3. Intracellular neutralization of influenza virus by immunoglobulin A anti-hemagglutinin monoclonal antibodies. Mazanec, M.B., Coudret, C.L., Fletcher, D.R. J. Virol. (1995) [Pubmed]
  4. Presence of human T lymphotropic virus type I in two patients with progressive myelopathy in Puerto Rico. Reyes-Iglesias, Y., Melendez-Feliciano, R., Garayalde-Cotroneo, G. Neurology (1991) [Pubmed]
  5. Folate intake, serum homocysteine and methylenetetrahydrofolate reductase (MTHFR) C677T genotype are not associated with oral cancer risk in Puerto Rico. Weinstein, S.J., Gridley, G., Harty, L.C., Diehl, S.R., Brown, L.M., Winn, D.M., Bravo-Otero, E., Hayes, R.B. J. Nutr. (2002) [Pubmed]
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  7. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Anikster, Y., Huizing, M., White, J., Shevchenko, Y.O., Fitzpatrick, D.L., Touchman, J.W., Compton, J.G., Bale, S.J., Swank, R.T., Gahl, W.A., Toro, J.R. Nat. Genet. (2001) [Pubmed]
  8. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). Gahl, W.A., Brantly, M., Kaiser-Kupfer, M.I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L.F., Kuehl, E.M., Troendle, J., Bernardini, I. N. Engl. J. Med. (1998) [Pubmed]
  9. Precocious sexual development in Puerto Rico and oestrogenic mycotoxins (zearalenone). Schoental, R. Lancet (1983) [Pubmed]
  10. Neuroendocrine regulation of cytokine production during experimental influenza viral infection: effects of restraint stress-induced elevation in endogenous corticosterone. Dobbs, C.M., Feng, N., Beck, F.M., Sheridan, J.F. J. Immunol. (1996) [Pubmed]
  11. Use of a fixed activated partial thromboplastin time ratio to establish a therapeutic range for unfractionated heparin. Bates, S.M., Weitz, J.I., Johnston, M., Hirsh, J., Ginsberg, J.S. Arch. Intern. Med. (2001) [Pubmed]
  12. Cystic fibrosis carrier screening practices in an ethnically diverse region: experience of the Genetic Network of the Empire State, Puerto Rico, and the U.S. Virgin Islands. Schwind, E.L., Wolfe, M., Greendale, K., Misra, L.M., Pass, K.A., Wallerstein, R. Genet. Test. (1999) [Pubmed]
  13. Clinicopathologic characteristics of head and neck squamous cell carcinoma in Puerto Ricans. Busquets, J.M., García, H.A., Trinidad-Pinedo, J., Baez, A. Puerto Rico health sciences journal. (2003) [Pubmed]
  14. Prevalence of steroid receptors and HER 2/neu in breast cancer biopsies of women living in Puerto Rico. Colón, E., Reyes, J.S., González Keelan, C., Climent-Peris, C. Puerto Rico health sciences journal. (2002) [Pubmed]
  15. A nationwide program for the use of preconceptional folic acid to prevent the development of open neural tube defects. Who is really using folic acid? de la Vega, A., Salicrup, E., Verdiales, M. Puerto Rico health sciences journal. (2002) [Pubmed]
  16. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J.P., Fong, C.T., Green, J.S., Heon, E., Legius, E., Levin, A.V., Nieuwenhuis, H.K., Pinckers, A., Tamura, N., Whiteford, M.L., Yamasaki, H., Spritz, R.A. Am. J. Hum. Genet. (1998) [Pubmed]
  17. Interaction between a single nucleotide polymorphism in the alcohol dehydrogenase 3 gene, alcohol consumption and oral cancer risk. Zavras, A.I., Wu, T., Laskaris, G., Wang, Y.F., Cartsos, V., Segas, J., Lefantzis, D., Joshipura, K., Douglass, C.W., Diehl, S.R. Int. J. Cancer (2002) [Pubmed]
  18. Epidemiologic study of pulmonary obstruction in workers occupationally exposed to ethyl and methyl cyanoacrylate. Goodman, M., Paustenbach, D., Sipe, K., Malloy, C.D., Chapman, P., Burke, M.L., Figueroa, R., Zhao, K., Exuzides, K.A. J. Toxicol. Environ. Health Part A (2000) [Pubmed]
  19. Diet therapy in adult lactose malabsorption: present practices. Welsh, J.D. Am. J. Clin. Nutr. (1978) [Pubmed]
  20. Diet and physical activity behaviors among Americans trying to lose weight: 2000 Behavioral Risk Factor Surveillance System. Bish, C.L., Blanck, H.M., Serdula, M.K., Marcus, M., Kohl, H.W., Khan, L.K. Obes. Res. (2005) [Pubmed]
  21. An apparent inverse relationship between serum cholesterol and cancer mortality in Puerto Rico. Garcia-Palmieri, M.R., Sorlie, P.D., Costas, R., Havlik, R.J. Am. J. Epidemiol. (1981) [Pubmed]
  22. New diterpenes from the Caribbean sponge Epipolasis reiswigi. Rodríguez, A.D., Vera, B. J. Org. Chem. (2001) [Pubmed]
  23. Early clinical manifestations, disease activity and damage of systemic lupus erythematosus among two distinct US Hispanic subpopulations. Vilá, L.M., Alarcón, G.S., McGwin, G., Friedman, A.W., Baethge, B.A., Bastian, H.M., Fessler, B.J., Reveille, J.D. Rheumatology (Oxford, England) (2004) [Pubmed]
  24. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Huizing, M., Anikster, Y., Fitzpatrick, D.L., Jeong, A.B., D'Souza, M., Rausche, M., Toro, J.R., Kaiser-Kupfer, M.I., White, J.G., Gahl, W.A. Am. J. Hum. Genet. (2001) [Pubmed]
  25. Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. Huizing, M., Anikster, Y., White, J.G., Gahl, W.A. Mol. Genet. Metab. (2001) [Pubmed]
  26. Microsatellite polymorphisms in the epidermal growth factor receptor (EGFR) gene and the transforming growth factor-alpha (TGFA) gene and risk of oral cancer in Puerto Rico. Kang, D., Gridley, G., Huang, W.Y., Engel, L.S., Winn, D.M., Brown, L.M., Bravo-Otero, E., Wu, T., Diehl, S.R., Hayes, R.B. Pharmacogenet. Genomics (2005) [Pubmed]
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  29. The contribution of immunohistochemistry in the diagnosis of pediatric neoplastic lesions in the University of Puerto Rico, School of Medicine. Negrón, D., Correa, M.S., Vélez-Rosario, R., Colón, L.E., Gonzalez-Keelan, C. Puerto Rico health sciences journal. (2001) [Pubmed]
  30. Full-thickness macular hole after LASIK for the correction of myopia. Arevalo, J.F., Mendoza, A.J., Velez-Vazquez, W., Rodriguez, F.J., Rodriguez, A., Rosales-Meneses, J.L., Yepez, J.B., Ramirez, E., Dessouki, A., Chan, C.K., Mittra, R.A., Ramsay, R.C., Garcia, R.A., Ruiz-Moreno, J.M. Ophthalmology (2005) [Pubmed]
 
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