Clinical evaluation of sibling pairs with gaucher disease discordant for parkinsonism.

BACKGROUND: Although the association between mutations in GBA1 and parkinsonism is well established, most GBA1 mutation carriers never develop parkinsonism, implicating the contribution of other genetic, epigenetic, and/or environmental modifiers. OBJECTIVES: To identify factors predisposing to or offering protection from parkinsonism among siblings with Gaucher's disease) discordant for Parkinson disease (PD). METHODS: This prospective, longitudinal study included nine sib pairs with Gaucher disease, but discordant for PD. Assessments included neurological, neuropsychological, olfactory, motor, nonmotor evaluations, and transcranial sonography. Validated mood and nonmotor questionnaires assessed fatigue, olfactory dysfunction, sleepiness, sleep disturbances, anxiety, and/or depression. RESULTS: There was no relationship between Gaucher treatments, genotype, or splenectomy and PD. Male sex predominance, younger age, and milder Gaucher disease symptoms were observed among the patients with PD. Substantia nigral echogenicity, olfactory dysfunction, serum triglycerides levels, and 9-hole peg scores, but not caffeine, alcohol, or tobacco use, environmental exposures, uric acid, or glucose levels, differed significantly between groups. CONCLUSIONS: Longitudinal evaluation of discordant sib pairs may help identify PD risk factors. © 2019 International Parkinson and Movement Disorder Society.

ACGME Milestones in global health: Need for standardized assessment of global health training in obstetrics/gynecology residency.

Collective interest in global health training during US obstetrics/gynecology (Ob/Gyn) residency has grown over the past decade. The benefits of participation in global health electives have been well described. This review seeks to determine what literature exists regarding the use of Accreditation Council for Graduate Medical Education (ACGME) Milestones in Ob/Gyn residency as an assessment tool to evaluate global health programs. The PubMed database was searched from July 14, 2020 to August 20, 2021, using six search phrases: "global health curriculum(s) and ACGME"; "international health and ACGME"; "global health and Ob/Gyn residency"; "international health and Ob/Gyn residency"; "global health and Ob/Gyn residents"; and "global health curriculum(s) and Ob/Gyn residency." Publications that described global health programming outside of residency, within other medical specialties, and/or at non-US institutions were excluded from this review. In total, 259 publications resulted from the preliminary search. Five articles described US global health residency training in Ob/Gyn in some capacity. Only one publication described a specific global health elective and its evaluation with respect to ACGME Milestones. Despite growing popularity of global health electives among residency programs, few are assessing the educational value of these offerings using ACGME Milestones or describing these efforts in the literature.