Objectives: Prospective cohort study to characterize the clinical features and course of
spinal muscular atrophy type I (SMA-I). Methods: Patients were enrolled at 3 study sites and …

The Hippo pathway is a key growth control pathway that is conserved across species. The
downstream effectors of the Hippo pathway, YAP (Yes-associated protein) and TAZ (…

Background Coffee is one of the most commonly consumed beverages in the world, but the
acute health effects of coffee consumption remain uncertain. Methods We conducted a …

Importance Corticosteroidal anti-inflammatory drugs are widely prescribed but long-term
use shows adverse effects that detract from patient quality of life. Objective To determine if …

Context Appendiceal adenomas and low-grade appendiceal mucinous neoplasms (LAMNs)
confined to the appendix are cured by appendectomy. However, involvement of the …

Goblet cell carcinoid tumors are amphicrine tumors whose biological behavior ranges from
indolent to highly aggressive, depending on tumor grade. Current grading systems for these …

Prune belly syndrome (PBS), also known as Eagle-Barret syndrome, is a rare, multi-system
congenital myopathy primarily affecting males. Phenotypically, PBS cases manifest three …

Immunotherapy with checkpoint inhibitors has proved to be highly effective, with durable
responses in a subset of patients. Given their encouraging clinical activity, checkpoint inhibitors …

The consequences of most hernias can be immediately corrected by surgical repair. However,
this isn’t always the case for children born with a congenital diaphragmatic hernia. The …

Background Mortality and ECMO rates for congenital diaphragmatic hernia (CDH) remain ~30%.
In 2016, we changed our CDH guidelines to minimize stimulation while relying on …