Ayah Ibrahim’s research while affiliated with Burrell College of Osteopathic Medicine and other places

This case report details the presentation, diagnosis, and management of a newborn Native American male with non-Herlitz junctional epidermolysis bullosa (JEB), a rare diagnosis specifically in the Native American population. Genetic analysis revealed a homozygous mutation in the COL17A1 gene. The management involved multidisciplinary care and highlighted the challenges in treatment, including pain management, wound care, and ethical considerations surrounding adoption within Indigenous communities. This case highlights the importance of tailored interventions and the need for further research into the genetic diversity and prevalence of epidermolysis bullosa (EB) among the Native American population.

Regenerative medicine leverages the body’s inherent regenerative capabilities to repair damaged tissues and address organ dysfunction. In orthopedics, this approach includes a variety of treatments collectively known as orthoregeneration, encompassing modalities such as prolotherapy, extracorporeal shockwave therapy, pulsed electromagnetic field therapy, therapeutic ultrasound, and photobiomodulation therapy, and orthobiologics like platelet-rich plasma and cell-based therapies. These minimally invasive techniques are becoming prominent due to their potential for fewer complications in orthopedic surgery. As regenerative medicine continues to advance, surgeons must stay informed about these developments. This paper highlights the current state of regenerative medicine in orthopedics and advocates for further clinical research to validate and expand these treatments to enhance patient outcomes.

A 46,XX male represents a variant of Klinefelter syndrome (47,XXY), under the category of a disorder of sex development (DSD). Despite possessing an XX karyotype, these individuals exhibit a male phenotype, which, in this case, results from a translocation of the SRY gene from the Y chromosome onto the X chromosome. This genetic alteration results in the development of male gonadal characteristics. This case report outlines a prenatal diagnosis of a 46,XX female in conflict with a level 2 ultrasound. It details the patient's presentation, diagnosis of an SRY-positive 46,XX male, and medical history. The discussion focuses on the advantages of early identification and intervention in managing symptom progression and addressing fertility challenges through hormone replacement therapy. Further exploration of 46,XX DSD early detection and the underlying mechanisms is essential for refining diagnostic and therapeutic approaches that result in a greater quality of life for these patients.