Corneal Abrasion Leading to Stromal Melt in a Patient With Myopia
This case report describes an incidence of corneal melt in a patient with a history of corneal insert implantation 26 years prior due to myopia.
Journal-based
Multicentric Reticulohistiocytosis
This case report describes large areas of erythema on the face, chest, and back with relatively clear boundaries and swollen hands with scattered skin-colored papules and nodules.
Genotype-Phenotype Correlations in Recessive Dystrophic Epidermolysis Bullosa – A Systematic Review
Importance Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder with wide clinical heterogeneity, ranging from localized skin fragility to life-limiting systemic complications. Understanding genotype-phenotype correlations in COL7A1, the causative gene, is critical for clinical prognostication, genetic counseling, and the…
Opportunistic Salpingectomy for Prevention of Tubo-Ovarian Carcinoma – The European Society of Gynaecological Oncology Consensus Statements
Importance The fallopian tube epithelium has been demonstrated to be an important source of tubo-ovarian carcinoma. Therefore, removal of the fallopian tubes during unrelated pelvic or abdominal surgery (opportunistic salpingectomy) can potentially lower future ovarian cancer risk. Objectives To assess current evidence…
Missed Posterior Myocardial Infarction Leading to Free Wall Rupture
This case report describes a patient in her early 60s who presented with substernal chest pain and diaphoresis.
Approach to Scarring Alopecia
This Clinical Insights outlines the clinical characteristics, diagnostic approach, and therapeutic strategies for managing scarring alopecias.
What Should Be Roles of Industry and the Public in Diagnostic Research?
Despite legislative attention from Congress in the 1980s, diagnostic research on rare diseases is not lucrative enough to garner sufficient private funding. The Undiagnosed Diseases Network supports diagnostic research and intervention innovation for patients with undiagnosed or rare conditions. This…
What Matters Ethically About How the UDN Has Changed Since Its Inception?
For persons living with an undiagnosed disease and their families, finding an accurate diagnosis can be a long and complex process. Having a rare condition that goes undiagnosed for a long period constitutes a significant part of these patients’ disease…
What Are Ethical Merits and Drawbacks of Viewing “Medical Mysteries” as Human Subject Research?
Patient-subjects’ participation in an Undiagnosed Diseases Network (UDN) protocol can afford access to innovative diagnostic techniques, especially in genomic medicine, which can shorten the time it takes to accurately diagnose a so-called “medical mystery.” But UDN research processes can be…
Management of Severe Refractory Asthma
This JAMA Insights explores the management of severe refractory asthma, including medications, access to specialists, and managing environmental triggers.
