Translational Research and Health Equity: Gene Therapies for Sickle Cell Disease as a Case Study
Ethics Hum Res. 2024 May-Jun;46(3):34-39. doi: 10.1002/eahr.500211.ABSTRACTIn August of 2023, the National Academies of Science, Engineering, and Medicine published a timely report titled "Toward Equitable Innovation in Health and Medicine: A Framework." Here, we review some of the key contributions of the report, focusing on two dimensions of equity: input equity and deployment equity. We then use the example of new gene therapies to treat sickle cell disease (SCD) as a case study of input and deployment equity in translational research. The SCD case study illustrates the need for a kind of translational bioethics with de...
Source: Cell Research - April 17, 2024 Category: Cytology Authors: Mary A Majumder Titilope Fasipe Source Type: research
Genetics Plays an Increasingly Important Role in the Management of Plastic Surgical Patients
Genetics has played an increasingly important role in patient management over recent decades, with innovations improving the care of diseases ranging from breast cancer to sickle cell disease. This is also the case in plastic surgery, where genetics informs patient care and offers promising treatment opportunities (Table 1). Already, plastic surgeons leverage genetic innovations to supplement management decisions for some conditions including craniosynostosis, cleft lip and/or palate, and Beckwith-Wiedemann syndrome, among others. (Source: Journal of Plastic, Reconstructive and Aesthetic Surgery)
Source: Journal of Plastic, Reconstructive and Aesthetic Surgery - April 17, 2024 Category: Cosmetic Surgery Authors: Dominic J. Romeo, Kaan T. Oral, Dillan F. Villavisanis, Jinggang J. Ng, Meagan Wu, Benjamin B. Massenburg, Jesse A. Taylor Source Type: research
Sickle cell disease today: a 75-year journey from "first molecular disease" to "first gene-editing therapy"
Swiss Med Wkly. 2024 Apr 10;154:3829. doi: 10.57187/s.3829.NO ABSTRACTPMID:38616700 | DOI:10.57187/s.3829 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 15, 2024 Category: General Medicine Authors: Marc Schapira Mark J Koury Irene Roberts Source Type: research
Sickle cell disease today: a 75-year journey from "first molecular disease" to "first gene-editing therapy"
Swiss Med Wkly. 2024 Apr 10;154:3829. doi: 10.57187/s.3829.NO ABSTRACTPMID:38616700 | DOI:10.57187/s.3829 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 15, 2024 Category: General Medicine Authors: Marc Schapira Mark J Koury Irene Roberts Source Type: research
Sickle cell disease today: a 75-year journey from "first molecular disease" to "first gene-editing therapy"
Swiss Med Wkly. 2024 Apr 10;154:3829. doi: 10.57187/s.3829.NO ABSTRACTPMID:38616700 | DOI:10.57187/s.3829 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 15, 2024 Category: General Medicine Authors: Marc Schapira Mark J Koury Irene Roberts Source Type: research
Sickle cell disease today: a 75-year journey from "first molecular disease" to "first gene-editing therapy"
Swiss Med Wkly. 2024 Apr 10;154:3829. doi: 10.57187/s.3829.NO ABSTRACTPMID:38616700 | DOI:10.57187/s.3829 (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - April 15, 2024 Category: General Medicine Authors: Marc Schapira Mark J Koury Irene Roberts Source Type: research
Beyond pulmonary embolism: Alternative diagnosis and incidental findings on CT pulmonary angiography in sickle cell disease
ConclusionThis study underscores the limited additional diagnostic yield of CTPA for identifying alternative diagnoses to PE in SCD patients, with the majority of diagnoses, such as pneumonia, already suggested by chest radiographs. The frequent incidental findings, most of which necessitate further evaluation, highlight the need for a cautious and tailored approach to using CTPA in the SCD population. (Source: Emergency Radiology)
Source: Emergency Radiology - April 15, 2024 Category: Emergency Medicine Source Type: research
Poor Sleep Quality in Jamaican Adults With Sickle Cell Disease: Prevalence, Risk Factors, and Association With Quality of Life
. (Source: Hemoglobin)
Source: Hemoglobin - April 15, 2024 Category: Hematology Authors: Nicki ChinMonika AsnaniCaribbean Institute for Health Research- Sickle Cell Unit, The University of the West Indies, Kingston, Jamaica Source Type: research
Multiple and hereditary renal tumors: a review for radiologists
Radiologia (Engl Ed). 2024 Mar-Apr;66(2):132-154. doi: 10.1016/j.rxeng.2024.03.001. Epub 2024 Mar 23.ABSTRACT80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of "sporadic" multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the rad...
Source: Radiologia - April 13, 2024 Category: Radiology Authors: M Á Corral de la Calle J Encinas de la Iglesia G C Fern ández Pérez A Fraino M Repoll és Cobaleda Source Type: research
Multiple and hereditary renal tumors: a review for radiologists
Radiologia (Engl Ed). 2024 Mar-Apr;66(2):132-154. doi: 10.1016/j.rxeng.2024.03.001. Epub 2024 Mar 23.ABSTRACT80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of "sporadic" multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the rad...
Source: Radiologia - April 13, 2024 Category: Radiology Authors: M Á Corral de la Calle J Encinas de la Iglesia G C Fern ández Pérez A Fraino M Repoll és Cobaleda Source Type: research
Multiple and hereditary renal tumors: a review for radiologists
Radiologia (Engl Ed). 2024 Mar-Apr;66(2):132-154. doi: 10.1016/j.rxeng.2024.03.001. Epub 2024 Mar 23.ABSTRACT80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of "sporadic" multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the rad...
Source: Radiologia - April 13, 2024 Category: Radiology Authors: M Á Corral de la Calle J Encinas de la Iglesia G C Fern ández Pérez A Fraino M Repoll és Cobaleda Source Type: research
Multiple and hereditary renal tumors: a review for radiologists
Radiologia (Engl Ed). 2024 Mar-Apr;66(2):132-154. doi: 10.1016/j.rxeng.2024.03.001. Epub 2024 Mar 23.ABSTRACT80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of "sporadic" multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the rad...
Source: Radiologia - April 13, 2024 Category: Radiology Authors: M Á Corral de la Calle J Encinas de la Iglesia G C Fern ández Pérez A Fraino M Repoll és Cobaleda Source Type: research
Constitutive hypercoagulability in pediatric sickle cell disease patients with hemoglobin SS genotype
CONCLUSION: Our results indicate that pediatric SCD patients with the HbSS genotype have constitutively activated hemostasis relative to HbSC patients and healthy children. It remains to be determined how treatments that improve clinical outcomes in SCD patients affect this constitutively hypercoagulable state.PMID:38605827 | PMC:PMC11004888 | DOI:10.1016/j.rpth.2024.102374 (Source: Cell Research)
Source: Cell Research - April 12, 2024 Category: Cytology Authors: Raizl G Sussman Joy Mburu MacGregor Steele Annie Bang Jeremy Friedman Ran Goldman Melanie Kirby Margaret L Rand Victor S Blanchette Fred G Pluthero Suzan Williams Walter H A Kahr Source Type: research
Constitutive hypercoagulability in pediatric sickle cell disease patients with hemoglobin SS genotype
CONCLUSION: Our results indicate that pediatric SCD patients with the HbSS genotype have constitutively activated hemostasis relative to HbSC patients and healthy children. It remains to be determined how treatments that improve clinical outcomes in SCD patients affect this constitutively hypercoagulable state.PMID:38605827 | PMC:PMC11004888 | DOI:10.1016/j.rpth.2024.102374 (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - April 12, 2024 Category: Hematology Authors: Raizl G Sussman Joy Mburu MacGregor Steele Annie Bang Jeremy Friedman Ran Goldman Melanie Kirby Margaret L Rand Victor S Blanchette Fred G Pluthero Suzan Williams Walter H A Kahr Source Type: research
