Renal Medullary Carcinoma

Msaouel, Pavlos; Rao, Priya; Tannir, Nizar M.

doi:10.1007/978-3-319-96989-3_6

Cited by 3 publications

(1 citation statement)

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“…While commonly incorrectly considered benign by providers and the public, people with a sickle cell trait experience a myriad of debilitating and life-threatening outcomes [3] that are initiated or exacerbated by extreme conditions, such as intense physical exertion, heat, dehydration, and high or low altitude [4]. This can lead to outcomes such as renal medullary carcinoma (RMC) [5], hematuria (blood in the urine) [6], hyposthenuria (inability to properly concentrate urine) [7], chronic kidney disease (CKD) [8], venous thromboembolism [9], splenic infarction [10], exertional rhabdomyolysis [11], exercise-related sudden death [12], glaucoma and hemorrhage post-hyphema [13], and, likely others [14]. Having a sickle cell trait can lead to negative health outcomes; people with the trait have been found to have up to 95% protection against malaria [15].…”

Section: Introductionmentioning

confidence: 99%

Promoting Sickle Cell Trait Awareness and Education: A Typology of Interventions in the United States to Inform Ongoing Efforts to Patients and Providers

Cunnington,

Greece

2024

Health

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Research Background: Sickle cell trait has no treatment or cure and predominantly affects people who are Black, but can affect anyone of any race or ethnicity. While commonly incorrectly considered benign by providers and the public, people with a sickle cell trait experience life-threatening outcomes that are exacerbated by extreme conditions. There is a severe lack of awareness and understanding of sickle cell trait and the associated health complications among sickle cell trait carriers and healthcare providers. Purpose/Aim: Interventions that aim to improve awareness of sickle cell trait differ in approaches and are not well documented in the literature. This typology aims to highlight current efforts to inform targeted interventions that raise awareness through consistent messaging, educate people and providers on sickle cell trait and the related health complications, and support the design and implementation of comprehensive sickle cell trait awareness initiatives. Methods: We conducted a scoping review of United States-based sickle cell trait interventions and performed a content analysis to identify the categories and characteristics of these efforts. We then organized the results into a typology according to established protocols. Results: Among 164 interventions, twenty-five (15%) met the typology inclusion criteria described above and were grouped into categories: Seven of twenty-five interventions were Educational Interventions (28%), three of twenty-five interventions (12%) were Combined Screening and Educational-Based Interventions, eight of twenty-five interventions (32%) were Policy and Guideline-Based Intervention, and six of twenty-five interventions (24%) were Sickle Cell Trait Organization-Led Interventions. Conclusions: There is a lack of consistency in messaging across interventions whether delivered by credible healthcare institutions or national How to cite this paper: Cunnington, S. and Greece, J.

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Section: Introductionmentioning

confidence: 99%

Promoting Sickle Cell Trait Awareness and Education: A Typology of Interventions in the United States to Inform Ongoing Efforts to Patients and Providers

Cunnington,

Greece

2024

Health

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SMARCB1/INI1-deficient tumors of adulthood

2020

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The SMARCB1/INI1 gene was first discovered in the mid-1990’s, and since then it has been revealed that loss of function mutations in this gene result in aggressive rhabdoid tumors. Recently, the term “rhabdoid tumor” has become synonymous with decreased SMARCB1/INI1 expression. When genetic aberrations in the SMARCB1/INI1 gene occur, the result can cause reduced, complete loss, and mosaic expression. Although SMARCB1/INI1-deficient tumors are predominantly sarcomas, this is a diverse group of tumors with mixed phenotypes, which can often make the diagnosis challenging. Prognosis for these aggressive tumors is often poor. Moreover, refractory and relapsing progressive disease is common. As a result, accurate and timely diagnosis is imperative. Despite the SMARCB1/INI1 gene itself and its implications in tumorigenesis being discovered over two decades ago, there is a paucity of rhabdoid tumor cases reported in the literature that detail SMARCB1/INI1 expression. Much work remains if we hope to provide additional therapeutic strategies for patients with aggressive SMARCB1/INI1-deficient tumors.

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SMARCB1/INI1-deficient tumors of adulthood

2020

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The SMARCB1/INI1 gene was first discovered in the mid-1990s, and since then it has been revealed that loss of function mutations in this gene result in aggressive rhabdoid tumors. Recently, the term “rhabdoid tumor” has become synonymous with decreased SMARCB1/INI1 expression. When genetic aberrations in the SMARCB1/INI1 gene occur, the result can cause complete loss of expression, decreased expression, and mosaic expression. Although SMARCB1/INI1-deficient tumors are predominantly sarcomas, this is a diverse group of tumors with mixed phenotypes, which can often make the diagnosis challenging. Prognosis for these aggressive tumors is often poor. Moreover, refractory and relapsing progressive disease is common. As a result, accurate and timely diagnosis is imperative. Despite the SMARCB1/INI1 gene itself and its implications in tumorigenesis being discovered over two decades ago, there is a paucity of rhabdoid tumor cases reported in the literature that detail SMARCB1/INI1 expression. Much work remains if we hope to provide additional therapeutic strategies for patients with aggressive SMARCB1/INI1-deficient tumors.

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Renal Medullary Carcinoma

Cited by 3 publications

References 50 publications

Promoting Sickle Cell Trait Awareness and Education: A Typology of Interventions in the United States to Inform Ongoing Efforts to Patients and Providers

Promoting Sickle Cell Trait Awareness and Education: A Typology of Interventions in the United States to Inform Ongoing Efforts to Patients and Providers

SMARCB1/INI1-deficient tumors of adulthood

SMARCB1/INI1-deficient tumors of adulthood

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