"Concordance" Revisited: A Multispecialty Appraisal of "Concordant" Preliminary Abdominopelvic CT Reports.

Purpose: To determine whether resident abdominopelvic CT reports considered prospectively concordant with the final interpretation are also considered concordant by other blinded specialists and abdominal radiologists.

Methods: In this institutional review board-approved retrospective cohort study, 119 randomly selected urgent abdominopelvic CT examinations with a resident preliminary report deemed prospectively "concordant" by the signing faculty were identified. Nine blinded specialists from Emergency Medicine, Internal Medicine, and Abdominal Radiology reviewed the preliminary and final reports and scored the preliminary report with respect to urgent findings as follows: 1.

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

Mutations in the LRRK2 gene result in autosomal dominant, late onset Parkinson's disease (PD). Three such mutations (p.R1441C, p.

LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease.

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common genetic determinant of Parkinson's disease (PD) in European-derived populations, but far less is known about LRRK2 mutations and susceptibility alleles in Asians. To address this issue, we sequenced the LRRK2 coding region in 36 patients with familial PD, then genotyped variants of interest in an additional 595 PD cases and 1,641 controls who were all of Japanese ancestry. We also performed a meta-analysis of studies on G2385R, a polymorphism previously reported to associate with PD.

LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.

The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is the most common genetic determinant of Parkinson disease (PD) identified to date. It accounts for 1%-7% of PD in patients of European origin and 20%-40% in Ashkenazi Jews and North African Arabs with PD. Previous studies concluded that patients from these populations all shared a common Middle Eastern founder who lived in the 13th century.