Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ deficiency: An underdiagnosed cause of mitochondriopathy.

Background: Primary CoQ deficiency occurs because of the defective biosynthesis of coenzyme Q, one of the key components of the mitochondrial electron transport chain. Patients with this disease present with a myriad of non-specific symptoms and signs, posing a diagnostic challenge. Whole-exome sequencing is vital in the diagnosis of these cases.

Qualitative Evaluation of a High-Resolution 3D Multi-Sequence Intracranial Vessel Wall Protocol at 3 Tesla MRI.

Background And Purpose: Intracranial vessel wall imaging using MRI has great potential as a clinical method for assessing intracranial atherosclerosis. The purpose of the current study was to compare three 3T MRI vessel wall sequences with different contrast weightings (T1w, PD, T2w) and dedicated sagittal orientation perpendicular to the middle cerebral artery, to the reconstructed sagittal image from a transverse 3D T1w volumetric isotropically reconstructed turbo spin-echo acquisition (VIRTA), and provide a clinical recommendation.

Materials And Methods: The above-mentioned sequences were acquired in 10 consecutive Chinese ischemic stroke or TIA patients (age: 68 years, sex: 4 females) with angiographic-confirmed MCA stenosis at 3T.

Analyzing risk response dynamics on the web: the case of Hurricane Katrina.

Using a unique data set that documented the hourly web-surfing behavior of over 140,000 Internet users in five southeastern states in August 2005, we explore the dynamics of information gathering as Hurricane Katrina developed and then hit South Florida and the Northern Gulf Coast. Using both elementary statistical methods and advanced techniques from functional data analysis,((1)) we examine both how storm events (such as the posting of warnings) affected traffic to weather-related websites, and how this traffic varied across locations and by characteristics of the web user. A general finding is that spatial-temporal variation in weather-site web traffic generally tracked the timing and scale of the storm threat experienced by a given area.