A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.

SAMD9, a ubiquitously expressed protein, is involved in several mechanisms, including endosome fusion, growth suppression and modulation of innate immune responses to stress and viral infections. While biallelic mutations in SAMD9 are linked to normophosphatemic familial tumoral calcinosis, heterozygous gain-of-function mutations in the same gene are responsible for MIRAGE, a multisystemic syndrome characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. A two-and-a-half-year-old girl, from a consanguineous Lebanese family, was included in this study.

HT-smFISH: a cost-effective and flexible workflow for high-throughput single-molecule RNA imaging.

The ability to visualize RNA in its native subcellular environment by using single-molecule fluorescence in situ hybridization (smFISH) has reshaped our understanding of gene expression and cellular functions. A major hindrance of smFISH is the difficulty to perform systematic experiments in medium- or high-throughput formats, principally because of the high cost of generating the individual fluorescent probe sets. Here, we present high-throughput smFISH (HT-smFISH), a simple and cost-efficient method for imaging hundreds to thousands of single endogenous RNA molecules in 96-well plates.

Lessons Learned From the Historical Trends on Thrombolysis Use for Acute Ischemic Stroke Among Medicare Beneficiaries in the United States.

Background: The most recent time trends on intravenous thrombolysis (IVT) utilization for acute ischemic stroke was reported in 2011 using the Get with the Guidelines. Our objectives are to assess and validate the change in IVT utilization through 2014 in a national sample of Medicare beneficiaries and to examine the effect of patient, stroke center designation, and geography on IVT utilization.

Methods: We built a comprehensive national stroke registry by combining patient-level, stroke center status, and geographical characteristics, using multiple data sources.

Higher Medicare Expenditures Are Associated With Better Integrated Care as Perceived by Patients.

Background: Integrated care that is continuous, coordinated and patient-centered is vital for Medicare beneficiaries, but its relationship to health care expenditures remains unclear.

Research Objective: This study explores-for the first time-the relationship between integrated care, as measured from the patient's perspective, and health care expenditures.

Methods: Subjects include a sample of continuously eligible fee-for-service Medicare beneficiaries (n=8807) in 2015.

A choreography of centrosomal mRNAs reveals a conserved localization mechanism involving active polysome transport.

Local translation allows for a spatial control of gene expression. Here, we use high-throughput smFISH to screen centrosomal protein-coding genes, and we describe 8 human mRNAs accumulating at centrosomes. These mRNAs localize at different stages during cell cycle with a remarkable choreography, indicating a finely regulated translational program at centrosomes.