We describe a consanguineous family in which two brothers were affected by childhood onset spastic ataxia with optic atrophy and loss of motor and language skills. Through a combination of homozygosity mapping and whole-genome sequencing, we identified a homozygous copy number variant in GLS as the cause. The duplication leads to complete knockout of GLS expression. GLS encodes the brain- and k...

Granular lymphocytes (GLs) in patients with GL-proliferative disorders (GLPDs) are known to express the interleukin-2 receptor (IL-2R) beta chain (p70-75) constitutively and to proliferate in response to stimulation with IL-2 via the beta chain. In this report, we found that the anti-CD3 monoclonal antibody (MoAb) OKT3 could induce the proliferation of GLs from patients with T-cell lineage GLPD...

BACKGROUND Increased arterial stiffness leads to increased pulsatile load on the heart. We investigated associations of components of pulsatile load with a measure of left ventricular (LV) systolic function-global longitudinal strain (GLS), in a community-based cohort ascertained based on family history of hypertension. METHODS Arterial tonometry and echocardiography with speckle tracking wer...

OBJECTIVE The purpose of this study was to examine how gliostatin/platelet-derived endothelial cell growth factor (GLS/PD-ECGF) is involved in the molecular mechanism of cartilage degradation in rheumatoid arthritis (RA) with special reference to the GLS-induced gene expression and protein synthesis of matrix metalloproteinase (MMP)-1 (collagenase-1) and MMP-3 (stromelysin-1). METHODS Fibrobl...

The species Verticillium represents a group of highly destructive fungal pathogens, responsible for vascular wilt in a number of crops. The host response to infection by Verticillium longisporum at the level of secondary plant metabolites has not been well explored. Natural variation in the glucosinolate (GLS) composition of four Arabidopsis thaliana accessions was characterized: the accessions...

BACKGROUND Speckle tracking-derived global longitudinal strain (GLS) of left ventricle is a potent prognostic marker for patients with ST-segment elevation myocardial infarction (STEMI). The purpose of this study was to investigate the difference of prognostic impact of GLS between anterior and nonanterior myocardial infarction. METHODS This study included 686 patients who underwent primary p...

BACKGROUND Following femur fracture, medullary fat enters the systemic circulation and altered pulmonary haemodynamics may contribute to pulmonary complications. This study evaluated the association between right ventricular (RV) function and pulmonary complications in patients with femur fracture. METHODS Patients with a femur fracture who had undergone pre-operative echocardiography that in...

In this note, we propose to use sparse methods (e.g. LASSO, Post-LASSO, √ LASSO, and Post√ LASSO) to form first-stage predictions and estimate optimal instruments in linear instrumental variables (IV) models with many instruments, p, in the canonical Gaussian case. The methods apply even when p is much larger than the sample size, n. We derive asymptotic distributions for the resulting IV estim...

‎in this paper‎, ‎we study spectral element approximation for a constrained‎ ‎optimal control problem in one dimension‎. ‎the equivalent a posteriori error estimators are derived for‎ ‎the control‎, ‎the state and the adjoint state approximation‎. ‎such estimators can be used to‎ ‎construct adaptive spectral elements for the control problems.

Using a speckle-tracking echocardiography (STE), we recently demonstrated that a left ventricular (LV) global longitudinal strain (GLS) ≥ -15% and the serum cardiac troponin T (cTnT) concentration are associated with mortality in stable hemodialysis patients with preserved LV ejection fraction (LVEF). In this study, we explored the relationship between cTnT and echocardiographic parameters and ...