Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency.

Single allele mutations in the Cell Division Control protein 42 homolog (CDC42) gene were recently shown to cause Takenouchi-Kosaki syndrome with diverse manifestations. These include persistent mild thrombocytopenia with large platelet size, severe developmental delay, growth retardation, facial dysmorphism, and other neurodevelopmental and hematological anomalies. CDC42 deficiency might also cause myelofibrosis, myeloproliferation, and severe autoinflammation.

The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?

A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis.

Impact of an in-house emergency radiologist on report turnaround time.

Background: One of the many challenges facing emergency departments (EDs) across North America is timely access to emergency radiology services. Academic institutions, which are typically also regional referral centres, frequently require cross-sectional studies to be performed 24 hours a day with expedited final reports to accelerate patient care and ED flow.

Objective: The purpose of this study was to determine if the presence of an in-house radiologist, in addition to a radiology resident dedicated to the ED, had a significant impact on report turnaround time.