Maria Alexandra Marcu

Dr. Maria Alexandra Marcu


Research Focus & Metrics

Academic Career Length

2Years (2025-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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5 April 2025 in Healthcare
Verified
Journal Article
Open access
PDF file
MLMaria Lupu
Maria Lupu
MMMaria Alexandra Marcu
Maria Alexandra Marcu
DEDiana Anamaria Epure
Diana Anamaria Epure
VOVladacenco Oana
Vladacenco Oana
Emilia SeverinEmilia Severin
Emilia Severin
Raluca D.V TeleanuRaluca D.V Teleanu
Raluca D.V Teleanu
Background: The transition from pediatric to adult care in Duchenne Muscular Dystrophy (DMD) is challenging due to the disease’s complexity and the need for lifelong, comprehensive management. In Romania, ongoing efforts aim to enhance multidisciplinary collaboration, though systemic barriers, such as fragmented healthcare services, persist. Nonsense mutations, including those in exon 30 described here, are often associated with more severe disease progression. Methods: We present the case of a 17-year-old Romanian DMD patient with a nonsense mutation in exon 30 of the dystrophin gene. The patient received multidisciplinary pediatric care addressing his medical needs, including neuromuscular, respiratory, cardiac, and orthopedic management. Transition readiness was assessed using the Transition Readiness Assessment Questionnaire (TRAQ), and the patient’s perspective on the process was documented. Results: Care followed international standards, but the disease progressed predictably, with gradual loss of ambulation, respiratory decline, and cardiac complications. The TRAQ revealed strengths in communication with healthcare providers but moderate confidence in self-management tasks. From the patient’s perspective, fragmented adult services and difficulty accessing specialized neuromuscular support remain major obstacles, underscoring the importance of early, structured transition planning and patient-centered approaches. Conclusions: Transitioning to adult services requires strong communication between pediatric and adult teams and integration of specialized care. Tailored follow-up plans ensure continuity of care and effective disease management. This case reflects broader needs in similar healthcare contexts, highlighting the necessity of robust transition frameworks to respond to patient-specific challenges and ultimately support long-term quality of life.