scholarly journals Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts

2021 ◽  
Vol 23 (1) ◽  
pp. 240
Author(s):  
Abdullah Y. Hassan ◽  
Sairah Yousaf ◽  
Moran R. Levin ◽  
Osamah J. Saeedi ◽  
Saima Riazuddin ◽  
...  
Keyword(s):  
Visual Acuity ◽  
African American ◽  
Structural Analysis ◽  
African Americans ◽  
Missense Variant ◽  
African American Family ◽  
American Family ◽  
Childhood Blindness ◽  
Bona Fide ◽  
The Right

Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in GJA3, which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in GJA3 are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive GJA3 allele, and the first report in African Americans. These results validate GJA3 as a bona fide gene for recessively inherited CC in humans.

scholarly journals Biblical Echoes and Communal Home in Jesmyn Ward's Salvage the Bones

2021 ◽  
Vol 62 ◽  
pp. 91-107
Author(s):  
Vicent Cucarella-Ramon
Keyword(s):  
African American ◽  
African Americans ◽  
Hurricane Katrina ◽  
African American Family ◽  
The Novel ◽  
American Family ◽  
National Belonging ◽  
National Space ◽  
Familial Bonds ◽  
Communal Healing

Jesmyn Ward’s second novel, Salvage the Bones (2011), offers a literary account of an African American family in dire poverty struggling to weather the horrors of Hurricane Katrina on the outskirts of Bois Sauvage, Mississippi. This article focuses on the novel’s ‘ideology of form’, which is premised on biblical models of narration —grounded on a literary transposition of The Book of Deuteronomy— that serves to portray the victimization of African Americans in mythical tones to evoke the country’s failed covenant between God and his chosen people. It also brings into focus the affective bonds of unity and communal healing relying on the idiosyncratic tenet of home understood as national space— following Winthrop’s foundational ideology. As I will argue, the novel contends that the revamped concept of communal home and familial bonds —echoing Winthrop’s emblem of national belonging— recasts the trope of biblical refuge as a potential tenet to foster selfassertion and to rethink the limits of belonging and acceptance.

Violence on Two Fronts

2019 ◽  
pp. 81-97
Author(s):  
James G. Mendez
Keyword(s):  
New York ◽  
New York City ◽  
African American ◽  
African Americans ◽  
York City ◽  
African American Family ◽  
American Family ◽  
Race Riots ◽  
The North ◽  
War Effort

Black troops and their families suffered from several kinds of violence inflicted on them alone. The rebels had a habit of killing black troops after they had surrendered or been captured. Yet, black troops continued to join the army and support the Union cause in spite of this risk; they fought harder in combat. In addition African-American family members in the North faced violence themselves at home. But, in their case, their assailants were white northerners, such as in the 1863 race riots in Detroit on March 6th and the three-day riots in New York City on July 13th–16th. Blacks were killed and wounded in both riots, and their property was destroyed. Even with the threat of violence against them in the North as well as the South, northern blacks continued to enlist and support the Union war effort. African Americans remained loyal to the Union and to the cause.

The Only American Community Where Men Call Each Other “Brother” When They Meet: Redefining Brotherhood and Sisterhood in the 1960s

Hurtin' Words ◽  
2018 ◽  
pp. 132-160
Author(s):  
Ted Ownby
Keyword(s):  
African American ◽  
African Americans ◽  
Family Life ◽  
African American Men ◽  
Racial Integration ◽  
African American Family ◽  
American Family ◽  
Men And Women ◽  
The 1960S ◽  
Moynihan Report

This chapter describes activists who rejected the idea of a crisis in African American family life. In response to the Moynihan Report of 1965, many African Americans rejected claims about the weakness of family life, offering the strength and creativity embodied in adaptable family definitions. At the same time, many African Americans began using the terms “brother” and “sister” not as arguments about racial integration but to refer to the shared experiences of African American men and women.

Making sense of loss through spirituality: Perspectives of African American family members who have experienced the death of a close family member to cancer

2017 ◽  
Vol 16 (6) ◽  
pp. 662-668 ◽  
Author(s):  
Jill B. Hamilton ◽  
Nakia C. Best ◽  
Jessica S. Wells ◽  
Valarie C. Worthy
Keyword(s):  
African American ◽  
African Americans ◽  
End Of Life ◽  
Family Member ◽  
Qualitative Content Analysis ◽  
Family Members ◽  
African American Family ◽  
American Family ◽  
Close Family Member ◽  
Life After Death

AbstractObjectiveAmong African Americans, spirituality is meaning or purpose in life and a faith in God who is in control of health and there to provide support and guidance in illness situations. Using qualitative methods, we explored the use of spirituality to make sense of the end-of-life and bereavement experiences among family members of a deceased cancer patient.MethodData in this report come from 19 African Americans who experienced the loss of a family member to cancer. A qualitative descriptive design was used with criterion sampling, open-ended semistructured interviews, and qualitative content analysis.ResultsParticipants made sense of the death of their loved one using the following five themes: Ready for life after death; I was there; I live to honor their memory; God's wisdom is infinite; and God prepares you and brings you through. These five themes are grounded in conceptualizations of spirituality as connectedness to God, self, and others.Significance of resultsOur findings support the results that even during bereavement, spirituality is important in the lives of African Americans. African American family members might struggle with issues related to life after death, their ability to be physically present during end-of-life care, and disentangling beliefs around God's control over the beginning and ending of life. The findings in this report can be used to inform healthcare providers to better support and address the needs for support of African American family members during end-of-life and bereavement experiences.

Racial Differences in Motivators and Barriers to Blood Donation Among Blood Donors

2009 ◽  
Vol 133 (9) ◽  
pp. 1444-1447
Author(s):  
Beth H. Shaz ◽  
Derrick G. Demmons ◽  
Krista L. Hillyer ◽  
Robert E. Jones ◽  
Christopher D. Hillyer
Keyword(s):  
African American ◽  
African Americans ◽  
Racial Differences ◽  
Blood Donors ◽  
Blood Donation ◽  
Screening Process ◽  
Center Staff ◽  
Predominately White ◽  
Donation Frequency ◽  
The Right

Abstract Context.—Nationally, African Americans are underrepresented in community blood donation programs. To increase blood donation by African Americans, differences between motivators and barriers to blood donation between races should be investigated. Objective.—To investigate motivators and barriers to blood donation in African American and white blood donors. Design.—An 18-item, anonymous, self-administered questionnaire regarding demographics and motivators and barriers to donation was completed by blood donors at a predominately African American and a predominately white fixed donation site. Results.—A total of 599 participants (20% African American, 75% white, and 5% other) completed the survey. The most commonly reported reasons to donate included: “because it is the right thing to do” (45% African Americans and 62% white) and “because I want to help save a life” (63% African Americans and 47% white). Unpleasant experiences did not differ as a barrier to continue donation between African Americans and whites. African Americans placed more importance on donating blood to someone with sickle cell disease, convenience of blood donation, treatment of donor center staff, and level of privacy during the screening process. Conclusions.—These data suggest that in a large metropolitan area, reasons for donation among African American and white donors differ. To retain and increase donation frequency of African American donors, these factors should be considered in creating an African American donor recruitment and retention program.

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