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Background: Very few studies have evaluated the quality of life (QoL) of children suffering from low‐flow vascular malformations. This is the first study investigating the influencing factors. Objectives: To identify the factors influencing QoL in children with low‐flow vascular malformations. Methods: We conducted a qualitative study employing focus group interviews (Clinical Trials Number: NCT03440827). The study was a prospective, interventional, non‐comparative, multicentre study performed in four expert centres for vascular anomalies. Qualitative data about personal experiences, feelings, difficulties, needs and various factors influencing behaviours were collected. Theme‐based content analysis (manual and specialist textural software guided) were used to analyse the verbatim transcripts of all focus group sessions. Manual qualitative discourse analysis was performed to identify the different themes and categories. Informatics' analyses were subsequently performed for each individual category. Results: Ten focus groups (26 individuals including 10 children aged 11 to 15 years) were conducted until saturation. Influencing factors were related to 4 categories: medical care, self‐image, social impact on daily activities and challenging social relationships. These factors were responsible for intrafamily upheavals and may lead to future identity‐building problems. Conclusions: This study provides an essential framework from which physicians can develop strategies to improve patient care and quality of life. These data may also be useful to develop specific age‐sensitive QoL questionnaires. [ABSTRACT FROM AUTHOR]

Secondary lymphedema (LD) corresponds to a severe lymphatic dysfunction leading to the accumulation of fluid and fibrotic adipose tissue in a limb. Here, we identified apelin (APLN) as a powerful molecule for regenerating lymphatic function in LD. We identified the loss of APLN expression in the lymphedematous arm compared to the normal arm in patients. The role of APLN in LD was confirmed in APLN knockout mice, in which LD is increased and associated with fibrosis and dermal backflow. This was reversed by intradermal injection of APLN-lentivectors. Mechanistically, APLN stimulates lymphatic endothelial cell gene expression and induces the binding of E2F8 transcription factor to the promoter of CCBE1 that controls VEGF-C processing. In addition, APLN induces Akt and eNOS pathways to stimulate lymphatic collector pumping. Our results show that APLN represents a novel partner for VEGF-C to restore lymphatic function in both initial and collecting vessels. As LD appears after cancer treatment, we validated the APLN-VEGF-C combination using a novel class of nonintegrative RNA delivery LentiFlash® vector that will be evaluated for phase I/IIa clinical trial., (© 2024. The Author(s).)

Background: Low-flow malformations (LFMs) are rare diseases with a significant impact on health-related quality of life (HRQoL), especially in children. No disease-specific questionnaire is available for children with LFMs., Objective: To develop and validate a specific HRQoL questionnaire for children from 11 to 15 years old suffering from LFMs., Methods: A preliminary questionnaire based on a verbatim from focus groups was created and sent to children from 11 to 15 years old suffering from LFMs, together with a dermatology-specific and a generic HRQoL questionnaire (cDLQI and EQ-5D-Y)., Results: A total of 75 from 201 included children responded to the questionnaires. The final version of the questionnaire (cLFM-QoL) included 15 questions and was not divisible into subscales. It demonstrated excellent internal consistency (cronbach 0.89), convergent validity and readability (SMOG 6.04). cLFM-QoL mean score (± SD) was 12.9/45 (8.03) for all grades of severity, for mild 8.22/45 (7.5), moderate 14.03/45 (8.35), severe 12.35/45 (6.59) or very severe patients 20.7/45 (3.39) (p 0.006)., Conclusion: cLFM-QoL is a validated short and easy to use specific questionnaire with excellent psychometric capacities. It will be suitable for any children aged 11-15 with LFMs, in daily practice or clinical trials., (© 2023 The Authors. Journal of the European Academy of Dermatology and Venereology published by John Wiley & Sons Ltd on behalf of European Academy of Dermatology and Venereology.)