Dubowitz syndrome (DubS) is a rare condition characterized by a range of medical challenges, including distinctive facial features and complications affecting the ocular, dental, dermatological, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological systems. This syndrome results from multiple gene mutations and is inherited in an autosomal recessive manner. The purpose of this article is to detail the multidisciplinary approach required to address the various clinical and social aspects of the syndrome. We present the case of a male Mexican patient diagnosed with DubS based on clinical features, particularly the characteristic facial appearance, despite inconclusive genetic testing. He displayed an average intellectual level but experienced behavioral issues, alongside ocular, dental, cutaneous, musculoskeletal, gastrointestinal, and hematological alterations. The patient received comprehensive care from a multidisciplinary team, including specialists in plastic and reconstructive surgery, pediatrics, psychology, genetics, nutrition, orthodontics, ophthalmology, stomatology, and phoniatrics. This collaborative approach resulted in positive functional and behavioral outcomes. Additionally, we conducted a review of the literature, noting that there are currently no established treatment guidelines. A thorough multidisciplinary strategy for patients with DubS can lead to improved esthetic and functional results, as well as enhanced social skills and self-esteem.
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http://dx.doi.org/10.7759/cureus.76804 | DOI Listing |
Nutr Hosp
March 2025
Facultad de Medicina. Universidad de Castilla-La Mancha.
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February 2025
Department of Cardiovascular Surgery, Fundacion Cardioinfantil-Instituto de Cardiologia, Bogotá, Colombia.
Connective tissue disorders are known to cause cardiac and vascular complications. We present the case of a 37-year-old female patient with a rare Ehlers Danlos/Osteogenesis Imperfecta Overlap Syndrome, referred to cardiac surgery with aortic valve regurgitation, who underwent a successful Biological Surgical Aortic Valve Replacement (SAVR). A multidisciplinary, patient-centered, heart-team approach is essential in managing patients with rare genetic disorders to optimize postoperative outcomes.
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March 2025
Department of Molecular Biology, School of Laboratory Medicine, Beihua University, Jilin, Jilin, 132013, People's Republic of China.
Tendon healing after ligament or tendon reconstruction remains a significant challenge. Regenerative tissue engineering, an interdisciplinary field that combines biology, materials science, and engineering, offers promising solutions. Recent developments have introduced scaffold materials designed to enhance the proliferation and differentiation of tendon-to-bone tissue cells.
View Article and Find Full Text PDFJAC Antimicrob Resist
April 2025
Department of Global Health and Development, London School of Hygiene and Tropical Medicine, London, UK.
Antimicrobial resistance (AMR) is a growing global health threat, which is increasingly quantified in terms of its human health and economic burden. In this article, we highlight that for policy and planning purposes the social burden of AMR is as important to attend to as health and economic burdens, requiring systematic consideration and measurement of multiple dimensions. We provide a conceptual and empirical overview of four dimensions of the social burden of AMR: the distribution of AMR among and between populations; the lived experiences of AMR by patients and carers; how and by whom AMR interventions are shouldered; and how AMR can change society.
View Article and Find Full Text PDFMed Hypothesis Discov Innov Ophthalmol
February 2025
Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Retinopathy of prematurity (ROP) is a leading cause of childhood blindness. It predominantly affects preterm infants with very low birth weights or extreme prematurity. Aberrant retinal vascular development, driven by hyperoxia and hypoxia-induced neovascularization, is central to ROP pathogenesis.
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