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Redefining Vaginal Agenesis Management: A Comprehensive Review.
Cureus
December 2024
Prosthodontics, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Vaginal agenesis, a rare and complex congenital anomaly predominantly linked to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome or complete androgen insensitivity syndrome (CAIS), demands innovative and highly individualized treatment strategies to achieve anatomical and functional restoration. While non-surgical options like vaginal dilation remain foundational, the advent of custom-made stents has redefined the paradigm of care, emerging as a transformative tool in both post-surgical and non-surgical management. Bridging the expertise of prosthodontics and gynecology, personalized stents not only enhance healing and maintain patency but also elevate patient comfort and compliance.
View Article and Find Full Text PDFPhakomatosis pigmentovascularis type 2a: a rare case report.
AME Case Rep
December 2024
Department of Dermatology, King Fahad Medical City, Riyadh, Saudi Arabia.
Background: Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement.
View Article and Find Full Text PDFTailgut cyst, management of a rare perianal mass: a case report.
AME Case Rep
November 2024
Department of General and Digestive Surgery, IRIS Sud Hospitals, Brussels, Belgium.
Background: A perianal mass has a wide range of possible diagnoses, including tailgut cysts. Tailgut cysts are congenital, and their development is slow. Because its most common placement is retro-rectal, it is extremely rare to find it on the perianal level only.
View Article and Find Full Text PDFDefining Excellence: The First Core Set of Quality Indicators for the European Paediatric Surgical Audit on Hirschsprung's Disease Care.
Acta Paediatr
January 2025
European Reference Network for Rare Inherited and Congenital Anomalies (ERNICA), Rotterdam, The Netherlands.
Aim: This study aimed to develop a universally applicable core set of quality indicators for Hirschsprung's disease care through a consensus-driven process, to standardise and improve care quality across Europe.
Methods: A modified Delphi method was used to achieve consensus among healthcare professionals (HPs) and patient representatives (PRs) across Europe. Participants completed three rounds of anonymous surveys, rating quality indicators for Hirschsprung's disease care.
Sleep health of adults and children with Moebius syndrome.
Res Dev Disabil
January 2025
School of Psychological Science, Oregon State University, 2950 SW Jefferson Way, Corvallis, OR 97331, USA. Electronic address:
Introduction: Moebius syndrome is a rare congenital disorder with frequent anecdotal reports of sleep disturbances not sufficiently categorized by prior literature. The present mixed-methods, two-phase study aimed to characterize the sleep health and symptoms of a cohort of adults and children (via parent proxies) with Moebius syndrome.
Methods: In Phase 1, participants were 46 adults with Moebius Syndrome (M=33.
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