Ehlers-Danlos syndromes

Ghali, Neeti; Sobey, Glenda; Burrows, Nigel

doi:10.1136/bmj.l4966

Cited by 48 publications

(62 citation statements)

References 16 publications

(19 reference statements)

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“…16 The 453 total awards covering all fcLUT examined, however, were less than the 473 grants identified addressing Ehlers-Danlos syndrome, a connective tissue disorder affecting~0.02% of the population. 17 All urologic malignancies and NUBC examined exhibited higher monetary support than any individual fcLUT ( Figure 2A). When normalized to population prevalence, fcLUT consistently exhibited lower ratios of award numbers and monetary funding to disease prevalence in comparison to other NUBC ( Figure 2B,C).…”

Section: Current Nih-sponsored Fclut Funding In Contextmentioning

confidence: 97%

Underrepresentation of functional conditions of the lower urinary tract in adults in US federal research funding

Souders

Ackerman

2020

Neurourology and Urodynamics

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Aims Evaluation and treatment of functional conditions of the lower urinary tract (fcLUT), a subset of benign urinary tract conditions, is highly subjective due to overlapping symptomatology. Despite high prevalence and socioeconomic cost, there has been little improvement in their treatment and lack of progress in understanding their pathophysiology. This study investigates trends in quantity, monetary amounts, and awardees' characteristics of federally funded research awards for fcLUT compared to nonurologic benign conditions (NUBCs) and urologic malignancies. Methods Data were extracted from the National Institutes of Health (NIH) and federal RePORTER databases in December 2019. We identified currently active awards in fcLUT, NUBC, and malignant urologic conditions and the associated demographic features of awardees. The authors also examined temporal funding trends for such awards. Results These database searches revealed that there are consistently fewer awards and funding dollars for the study of fcLUT compared to other benign conditions with similar prevalences. While most research topics have received increased funding in awards and overall funding dollars over time, fcLUT funding has remained relatively flat. Urologists are also underrepresented; only 11 of the 86 recipients of NIH R01 awards to study fcLUT have clinical training in urology. Conclusions Even when compared to NUBC, funding for the study of fcLUT remains low and has stagnated over time. Further, investigators who are clinicians in the field of urology are in the minority of those doing this study. Given the need for clinical perspectives in fcLUT research, the lack of urologist representation will inhibit discovery and translational advances.

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Section: Current Nih-sponsored Fclut Funding In Contextmentioning

confidence: 97%

Underrepresentation of functional conditions of the lower urinary tract in adults in US federal research funding

Souders

Ackerman

2020

Neurourology and Urodynamics

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“…COL3A1: Mutations in collagen III chains are responsible for Ehlers-Danlos Syndrome type IV [61]. This syndrome is characterized by fragility of connective tissue with clinical manifestations affecting the skin, joints, blood vessels, and other organs [62].…”

Section: Genes Potentially Related To Increased Ecm Stiffnessmentioning

confidence: 99%

Potential Molecular Pathways Related to Pulmonary Artery Aneurysm Development: Lessons to Learn from the Aorta

Nuche

Palomino-Doza

Arribas

et al. 2020

IJMS

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Pulmonary arterial hypertension (PAH) is a rare disease caused by pulmonary vascular remodeling. Current vasodilator treatments have substantially improved patients' survival. This improved survival has led to the appearance of complications related to conditions previously underdiagnosed or even ignored, such as pulmonary artery aneurysm (PAA). The presence of a dilated pulmonary artery has been shown to be related to an increased risk of sudden cardiac death among PAH patients. This increased risk could be associated to the development of left main coronary artery compression or pulmonary artery dissection. Nevertheless, very little is currently known about the molecular mechanisms related to PAA. Thoracic aortic aneurysm (TAA) is a well-known condition with an increased risk of sudden death caused by acute aortic dissection. TAA may be secondary to chronic exposure to classic cardiovascular risk factors. In addition, a number of genetic variants have been shown to be related to a marked risk of TAA and dissection as part of multisystemic syndromes or isolated familial TAA. The molecular pathways implied in the development of TAA have been widely studied and described. Many of these molecular pathways are involved in the pathogenesis of PAH and could be involved in PAA. This review aims to describe all these common pathways to open new research lines that could help lead to a better understanding of the pathophysiology of PAH and PAA and their clinical implications.

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“…Over the past 15 years, my caseload of patients with Ehlers-Danlos syndromes (EDS)4 has increased from two a year to two a month. Almost all have hypermobile EDS.…”

mentioning

confidence: 99%

“…Ghali and colleagues note that 10-30% of the general population have the hypermobility score required,4 and other sources indicate that up to 40% of women will meet these criteria 2. Chronic widespread pain is totally subjective, and a family history of the same presentation is very likely if hypermobility is the main objective criterion.…”

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confidence: 99%