Guideline-directed medical therapies (GDMTs) for chronic kidney disease with type 2 diabetes (CKD + T2D): Translation of lessons learned from the management of heart failure.

Although guideline-directed medical therapy (GDMT) is an evidence-based, proven approach to manage chronic kidney disease and type 2 diabetes (CKD + T2DM), adherence is low and multifactorial. Opportunities exist to improve care delivery, thus delaying disease progression, avoiding unnecessary costs, and potentially improving quality of life for patients both diagnosed and yet to be diagnosed.

Measurement accuracy of prototype non-contrast, compressed sensing-based, respiratory motion-resolved whole heart cardiovascular magnetic resonance angiography for the assessment of thoracic aortic dilatation: comparison with computed tomography angiography.

Background: Patients with thoracic aortic dilatation who undergo annual computed tomography angiography (CTA) are subject to repeated radiation and contrast exposure. The purpose of this study was to evaluate the feasibility of a non-contrast, respiratory motion-resolved whole-heart cardiovascular magnetic resonance angiography (CMRA) technique against reference standard CTA, for the quantitative assessment of cardiovascular anatomy and monitoring of disease progression in patients with thoracic aortic dilatation.  METHODS: Twenty-four patients (68.

Correcting versus resolving respiratory motion in free-breathing whole-heart MRA: a comparison in patients with thoracic aortic disease.

Background: Whole-heart magnetic resonance angiography (MRA) requires sophisticated methods accounting for respiratory motion. Our purpose was to evaluate the image quality of compressed sensing-based respiratory motion-resolved three-dimensional (3D) whole-heart MRA compared with self-navigated motion-corrected whole-heart MRA in patients with known thoracic aorta dilation.

Methods: Twenty-five patients were prospectively enrolled in this ethically approved study.

Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.

This study is the first to describe age-related changes in a large cohort of patients with Phelan-McDermid syndrome (PMS), also known as 22q13 deletion syndrome. Over a follow-up period of up to 12 years, physical examinations and structured interviews were conducted for 201 individuals diagnosed with PMS, 120 patients had a focused, high-resolution 22q12q13 array CGH, and 92 patients' deletions were assessed for parent-of-origin. 22q13 genomic anomalies include terminal deletions of 22q13 (89 %), terminal deletions and interstitial duplications (9 %), and interstitial deletions (2 %).

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.

Purpose: Phelan-McDermid syndrome is a developmental disability syndrome with varying deletions of 22q13 and varying clinical severity. We tested the hypothesis that, in addition to loss of the telomeric gene SHANK3, specific genomic regions within 22q13 are associated with important clinical features.

Methods: We used a customized oligo array comparative genomic hybridization of 22q12.

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Background: The clinical features of Phelan-McDermid syndrome (also known as 22q13 deletion syndrome) are highly variable and include hypotonia, speech and other developmental delays, autistic traits and mildly dysmorphic features. Patient deletion sizes are also highly variable, prompting this genotype-phenotype association study.

Methods: Terminal deletion breakpoints were identified for 71 individuals in a patient cohort using a custom-designed high-resolution oligonucleotide array comparative genomic hybridisation platform with a resolution of 100 bp.

United States head circumference growth reference charts: birth to 21 years.

Objective: To produce a more reliable, continuous set of occipitofrontal head circumference (OFC) growth reference charts for males and females from birth to adulthood in the United States.

Study Design: After investigating the strengths and shortcomings of previous reports, we combined the most recent statistically reliable reports of OFC growth reference data into a locally weighted regression analysis to estimate percentile curves. We used cross-sectional prospective local pediatric data to validate our results.