Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.

Background: The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.

Results: Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41).

Targeted pre-conditioning and cell transplantation in the murine lower respiratory tract.

Transplantation of airway basal stem cells could achieve a durable cure for genetic diseases of the airway, such as cystic fibrosis and primary ciliary dyskinesia. Recent work demonstrated the potential of primary- and pluripotent stem cell (PSC)-derived basal cells to efficiently engrai into the mouse trachea aier injury. However, there are many hurdles to overcome in translating these approaches to humans including developing safe and efficient methods for delivery in larger animal models.

Dexmedetomidine for Less Invasive Surfactant Administration: A Pilot Study.

Introduction: Less invasive surfactant administration (LISA) involves delivering surfactant to a spontaneously breathing infant by passing a thin catheter through the vocal cords and has become the preferred method for surfactant delivery. However, the role of pre-LISA sedation remains unclear.

Objective: The aim of this study was to describe the use of dexmedetomidine for LISA in preterm and early-term infants.

Accurate Thermochemistry with Multireference Methods: A Stress Test for Internally Contracted Multireference Coupled-Cluster Theory.

The internally contracted multireference coupled-cluster method with single, double and perturbative triple excitations, icMRCCSD(T), was tested for its performance in the context of computational high-accuracy thermochemistry. The results were gauged against the standard single-reference coupled-cluster hierarchy with up to 5-fold excitations. The test set comprised of a selection of first-row dinuclear compounds and the three 3d-transition metal compounds MnH, FeH, and CoH.

The representational geometry for naturalistic textures in macaque V1 and V2.

Our understanding of visual cortical processing has relied primarily on studying the selectivity of individual neurons in different areas. A complementary approach is to study how the representational geometry of neuronal populations differs across areas. Though the geometry is derived from individual neuronal selectivity, it can reveal encoding strategies difficult to infer from single neuron responses.