Pathology Central Race in Medicine: SCID, the Navajo Nation and the Jicarilla Apache
Автор: PathologyCentral
Загружено: 2021-11-18
Просмотров: 279
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This video will provide context to the statement, " “The overall prevalence of [severe combined immunodeficiency] is approximately 1 in 65,000 to 1 in 100,000, but it is 20 to 30 times more frequent in some Native American populations.” from the 10th edition of Robbins Basic Pathology.
The statement, while factual, feels a bit like a "factoid" to me. Without context, it is just something else to show up on an exam question. I address the origins and migration of the Athabascan peoples, details of the Long Walk of the Navajo, the evolutionary consequences of population bottlenecks and how an understanding of all of this can lead to better patient care.
References (links follow each citation)
Begay RL, Garrison NA, Sage F, Bauer M, Knoki-Wilson U, Begay DH, Becenti-Pigman B, Claw KG. Weaving the Strands of Life (Iiná Bitł'ool): History of Genetic Research Involving Navajo People. Hum Biol. 2020 Jul 9;91(3):189-208. doi: 10.13110/humanbiology.91.3.04. PMID: 32549035. Link: https://pubmed.ncbi.nlm.nih.gov/32549...
Holve S, Hu D, McCandless SE. Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian wars of the nineteenth century. Am J Med Genet. 2001 Jul 1;101(3):203-8. doi: 10.1002/ajmg.1362. PMID: 11424134. Link: https://pubmed.ncbi.nlm.nih.gov/11424...
Jones JF, Ritenbaugh CK, Spence MA, Hayward A. Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics. Hum Biol. 1991 Oct;63(5):669-82. PMID: 1916741. Link: https://pubmed.ncbi.nlm.nih.gov/1916741/
Kwan A et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. Link: https://pubmed.ncbi.nlm.nih.gov/25138...
Kwan A, Hu D, Song M, Gomes H, Brown DR, Bourque T, Gonzalez-Espinosa D, Lin Z, Cowan MJ, Puck JM. Successful newborn screening for SCID in the Navajo Nation. Clin Immunol. 2015 May;158(1):29-34. doi: 10.1016/j.clim.2015.02.015. Epub 2015 Mar 8. PMID: 25762520; PMCID: PMC4420660. Link: https://pubmed.ncbi.nlm.nih.gov/25762...
Kwong PC, O'Marcaigh AS, Howard R, Cowan MJ, Frieden IJ. Oral and genital ulceration: a unique presentation of immunodeficiency in Athabascan-speaking American Indian children with severe combined immunodeficiency. Arch Dermatol. 1999 Aug;135(8):927-31. doi: 10.1001/archderm.135.8.927. PMID: 10456341. Link: https://pubmed.ncbi.nlm.nih.gov/10456...
Lewandowska, Magdalena. (2020). Athapaskan Migration to the North American Southwest. Contributions in New World Archaeology. 12. 10.33547/cnwa.12.05. Link: https://www.researchgate.net/publicat...
Li L, Drayna D, Hu D, Hayward A, Gahagan S, Pabst H, Cowan MJ. The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. Am J Hum Genet. 1998 Jan;62(1):136-44. doi: 10.1086/301688. PMID: 9443881; PMCID: PMC1376812. Link: https://pubmed.ncbi.nlm.nih.gov/9443881/
Li L, Moshous D, Zhou Y, Wang J, Xie G, Salido E, Hu D, de Villartay JP, Cowan MJ. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J Immunol. 2002 Jun 15;168(12):6323-9. doi: 10.4049/jimmunol.168.12.6323. PMID: 12055248. Link: https://pubmed.ncbi.nlm.nih.gov/12055...
Murphy S, Hayward A, Troup G, Devor EJ, Coons T. Gene enrichment in an American Indian population: an excess of severe combined immunodeficiency disease. Lancet. 1980 Sep 6;2(8193):502-5. doi: 10.1016/s0140-6736(80)91833-4. PMID: 6105560.Link: https://pubmed.ncbi.nlm.nih.gov/6105560/
Thompson EA, Neel JV. Probability of founder effect in a tribal population. Proc Natl Acad Sci U S A. 1978 Mar;75(3):1442-5. doi: 10.1073/pnas.75.3.1442. PMID: 274730; PMCID: PMC411488. Link: https://pubmed.ncbi.nlm.nih.gov/274730/
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