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A DPYD variant (Y186C) specific to individuals of African descent in a patient with life-threatening 5-FU toxic effects: potential for an individualized medicine approach.
Saif, MW, Lee, AM, Offer, SM, McConnell, K, Relias, V, Diasio, RB
Mayo Clinic proceedings. 2014;(1):131-136
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Abstract
5-Fluorouracil (5-FU) is commonly administered as a therapeutic agent for the treatment of various aggressive cancers. Severe toxic reactions to 5-FU have been associated with decreased levels of dihydropyrimidine dehydrogenase (DPD) enzyme activity. Manifestations of 5-FU toxicity typically include cytopenia, diarrhea, stomatitis, mucositis, neurotoxicity, and, in extreme cases, death. A variety of genetic variations in DPYD, the gene encoding DPD, are known to result in decreased DPD enzyme activity and to contribute to 5-FU toxic effects. Recently, it was reported that healthy African American individuals carrying the Y186C DPYD variant (rs115232898) had significantly reduced DPD enzyme activity compared with noncarriers of Y186C. Herein, we describe for the first time, to our knowledge, an African American patient with cancer with the Y186C variant who had severe toxic effects after administration of the standard dose of 5-FU chemotherapy. The patient lacked any additional toxic effect-associated variations in the DPYD gene or the thymidylate synthase (TYMS) promoter. This case suggests that Y186C may have contributed to 5-FU toxicity in this patient and supports the use of Y186C as a predictive marker for 5-FU toxic effects in individuals of African ancestry.
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Mild iron overload in an African American man with SLC40A1 D270V.
Lee, PL, Gaasterland, T, Barton, JC
Acta haematologica. 2012;(1):28-32
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Abstract
We report on a 46-year-old black man who resided in Alabama with normal transferrin saturation, mild hyperferritinemia, chronic hepatitis C, and 3+ iron in hepatocytes and Kupffer cells. Exome sequencing revealed heterozygosity for SLC40A1 D270V (exon 7, c.809A→T), a mutation previously reported only in 1 black patient with iron overload who resided in the Republic of South Africa. The present patient was also heterozygous for: heme transporter FLVCR1 novel allele P542S (exon 10, 1624C→T); FLVCR1 T544M (rs3207090); hemopexin (HPX) R371W (rs75307540); ferritin scavenger receptor (SCARA5) R471H (rs61737287); and transferrin receptor (TFRC) G420S (rs41295879). He had no HFE, TFR2,HJV, or HAMP mutations. D270V was not detected in 19 other African Americans with iron overload who resided in Alabama. The allele frequency of SLC40A1 D270V in 258 African American adults who participated in a health appraisal clinic was 0.0019 (95% confidence interval 0-0.0057). D270V could explain 'classical' ferroportin hemochromatosis phenotypes in some African Americans.
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Art therapy: Using the creative process for healing and hope among African American older adults.
Johnson, CM, Sullivan-Marx, EM
Geriatric nursing (New York, N.Y.). 2006;(5):309-16
Abstract
This article provides an introduction to the field of art therapy and the potential it can offer to address the emotional needs of the frail elderly. Two case studies are discussed, and examples of artwork are provided. The case studies and artwork were created under the guidance of an art therapist at a Program of All-Inclusive Care for the Elderly (PACE) site in an urban African American community. This article explores how art making addresses the specific developmental tasks of the elderly in a culturally competent manner. Included are practical considerations in the choice of art media and directives for working with elderly clients, as well as resources for further information on the use of art in therapy.