Severe clinical manifestations in an extremely low birthweight preterm baby with vascular <scp>Ehlers–Danlos</scp> syndrome

Kida, Ayako; Hayashi, Shujiro; Ueno, Yasuhisa; Kitano, Hiroyuki; Nakada, Yuya; Asakura, Yuka; Mizutomi, Shinichiro; Kamiga, Mayuna; Igawa, Ken

doi:10.1111/1346-8138.16493

Cited by 3 publications

(2 citation statements)

References 5 publications

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Section: Patients and Samplesmentioning

confidence: 99%

Ehlers-Danlos syndrome: From bedside to bench

2024

Frontiers Research Topics

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Frontiers is more than just an open access publisher of scholarly articles: it is a pioneering approach to the world of academia, radically improving the way scholarly research is managed. The grand vision of Frontiers is a world where all people have an equal opportunity to seek, share and generate knowledge. Frontiers provides immediate and permanent online open access to all its publications, but this alone is not enough to realize our grand goals. Frontiers journal seriesThe Frontiers journal series is a multi-tier and interdisciplinary set of openaccess, online journals, promising a paradigm shift from the current review, selection and dissemination processes in academic publishing. All Frontiers journals are driven by researchers for researchers; therefore, they constitute a service to the scholarly community. At the same time, the Frontiers journal series operates on a revolutionary invention, the tiered publishing system, initially addressing specific communities of scholars, and gradually climbing up to broader public understanding, thus serving the interests of the lay society, too. Dedication to qualityEach Frontiers article is a landmark of the highest quality, thanks to genuinely collaborative interactions between authors and review editors, who include some of the world's best academicians. Research must be certified by peers before entering a stream of knowledge that may eventually reach the public -and shape society; therefore, Frontiers only applies the most rigorous and unbiased reviews. Frontiers revolutionizes research publishing by freely delivering the most outstanding research, evaluated with no bias from both the academic and social point of view. By applying the most advanced information technologies, Frontiers is catapulting scholarly publishing into a new generation. What are Frontiers Research Topics?Frontiers Research Topics are very popular trademarks of the Frontiers journals series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area.

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Section: Patients and Samplesmentioning

confidence: 99%

Ehlers-Danlos syndrome: From bedside to bench

2024

Frontiers Research Topics

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“…The exclusion criteria were as follows: patients who did not undergo genetic analysis for COL3A1; those aged <17 years (excluding those with asymptomatic diagnoses based on the Frontiers in Genetics frontiersin.org information of their relatives); those who did not undergo skin biopsy for sample collection from unexposed upper arms; those who did not undergo analysis for the expression level of procollagen III in cultured fibroblasts; those without full information of clinical symptoms in the medical record; and those who had reduced procollagen III levels but no COL3A1 mutations (Supplementary Figure S1). Notably, data regarding some cases of vEDS were obtained from our previous reports (Hayashi et al, 2020;Kida et al, 2022;Yamaguchi et al, 2023). Two or more dermatologists and one geneticist with >15 years of experience recorded the presence of clinical symptoms during diagnosis based on the clinical diagnostic criteria reported in a previous study (Beighton et al, 1998;Malfait et al, 2017).…”

Section: Patients and Samplesmentioning

confidence: 99%

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy

Ishikawa,

Hayashi,

Sairenchi

et al. 2023

Front. Genet.

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Background: Vascular-type Ehlers–Danlos syndrome (vEDS) is caused by collagen III deficit resulting from heterogeneous mutations in COL3A1, which occasionally causes sudden death due to arterial/visceral rupture. However, it is difficult to conduct basic research on the pathophysiology of vEDS. Moreover, the number of patients with vEDS is small, limiting the number of available samples. Furthermore, the symptoms of vEDS may vary among family members, even if they share the same mutation. Accordingly, many aspects of the pathology of vEDS remain unknown. Therefore, we investigated the structural abnormalities in collagen fibrils and endoplasmic reticulum (ER) stress in skin samples using electron microscopy as well as their relationship with clinical symptoms in 30 patients with vEDS (vEDS group) and 48 patients without vEDS (disease-negative control group).Methods: Differences between the two groups were evaluated in terms of the sizes of collagen fibrils using coefficient of variation (COV).Results: COV was found to be significantly higher in the vEDS group than in the disease-negative control group, indicating irregularity in the size of collagen fibrils. However, in the vEDS group, some patients had low COV and seldom experienced serious complications and ER stress.Conclusion: ER stress might affect collagen fibril-composing proteins. Moreover, as this stress varies among people based on environmental factors and aging, it may be the underlying cause of varying vEDS symptoms.

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Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood

Wilkinson,

Cervi,

Wagner

et al. 2024

Eur J Hum Genet

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Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this. Patients were identified through the National Ehlers-Danlos Syndrome (EDS) Service London. We report on 18 events in childhood, recorded in 13 individuals. First events occurred at a median age of 11 years (IQR 0–13) and genetic testing was initiated as a direct result of the first event in 11/13 cases. In the cohort majority, diagnosis was the result of familial genetic testing (55%). Our findings emphasise the importance of offering genetic testing in childhood when there is a positive family history of vEDS and/or features suggestive of a potential inherited connective tissue disorder. Diagnosis in childhood allows for follow-up surveillance and informed multi-disciplinary management, in addition to genetic counselling and patient-led management including lifestyle modification. As seen in adult cohorts, we anticipate children with vEDS will experience the same protective benefit afforded by early diagnosis and present preliminary data on follow-up in childhood. Formal evaluation of the impact that diagnosis of vEDS in childhood has on disease management is needed when sufficient data is internationally available.

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Severe clinical manifestations in an extremely low birthweight preterm baby with vascular Ehlers–Danlos syndrome

Cited by 3 publications

References 5 publications

Ehlers-Danlos syndrome: From bedside to bench

Ehlers-Danlos syndrome: From bedside to bench

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood

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