Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.

Congenital muscular dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is caused by recessive mutations in LAMA2, the gene encoding laminin alpha 2. Currently, no cure or disease modifying therapy has been successfully developed for MDC1A. Examination of patient muscle biopsies revealed altered distribution of lysosomes.

Deep learning for image analysis: Personalizing medicine closer to the point of care.

The precision-based revolution in medicine continues to demand stratification of patients into smaller and more personalized subgroups. While genomic technologies have largely led this movement, diagnostic results can take days to weeks to generate. Management at, or closer to, the point of care still heavily relies on the subjective qualitative interpretation of clinical and diagnostic imaging findings.

Urothelial carcinoma involving the distal penis.

Urothelial carcinoma (UC) rarely metastasizes to the penis and skin. We report the case of a 73-year-old man with UC metastases to the corpus spongiosum and dermis of the distal penis. We also review the clinicopathologic characteristics and management options for UC metastasizing to the penis.

Clinical decision analysis: Incorporating the evidence with patient preferences.

Decision analysis has become an increasingly popular decision-making tool with a multitude of clinical applications. Incorporating patient and expert preferences with available literature, it allows users to apply evidence-based medicine to make informed decisions when confronted with difficult clinical scenarios. A decision tree depicts potential alternatives and outcomes involved with a given decision.

Outcome of third renal allograft retransplants versus primary transplants from paired donors.

Background: Third kidney retransplants have technical and immunologic hurdles that may preclude success, which is of particular importance in the contemporary context of discrepancy between organ supply and demand.

Methods: The outcomes of third renal transplant recipients (TRTR) were compared with those receiving a first transplant from paired donor kidneys to assess transplant success and complication rates. The Ontario-based Trillium Gift of Life Network database was used to identify deceased donors (n=28) who donated one kidney to a TRTR and the mate kidney to a primary renal transplant recipient (PRTR) from June 1977 to August 2006.