Association Between Time to Endovascular Therapy and Outcomes in Patients With Acute Basilar Artery Occlusion.

Objective: To characterize the association of onset to puncture time (OPT) with clinical outcomes among patients with acute basilar artery occlusion receiving endovascular therapy (EVT) in clinical practice.

Methods: Using the EVT for Acute Basilar Artery Occlusion (BASILAR) study, we identified consecutive patients with acute basilar artery occlusion receiving EVT in 47 comprehensive stroke centers in China from January 2014 to May 2019. The primary outcome was favorable functional outcome (defined as modified Rankin Scale score [mRS] 0-3) at 90 days.

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of in a Consanguineous Family with Hermansky-Pudlak Syndrome.

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder with an autosomal recessive inherited pattern. It is mainly characterized by deficiencies in lysosome-related organelles, such as melanosomes and platelet-dense granules, and leads to albinism, visual impairment, nystagmus, and bleeding diathesis. A small number of patients will present with granulomatous colitis or fatal pulmonary fibrosis.

Investigation of Nonmotor Symptoms in First-Degree Relatives of Patients with Different Clinical Types of Parkinson's Disease.

Background: Nonmotor symptoms (NMS) are prodromal characteristics of Parkinson's disease (PD). The first-degree relatives (FDR) of PD patients had a higher risk of PD and also had more NMS.

Objective: To delineate NMS in FDR of patients with different clinical types of PD.