Novel variant alters splicing of in family with features of Loeys-Dietz syndrome.

Loeys-Dietz syndrome (LDS) is a connective tissue disorder representing a wide spectrum of phenotypes, ranging from isolated thoracic aortic aneurysm or dissection to a more severe syndromic presentation with multisystemic involvement. Significant clinical variability has been noted for both related and unrelated individuals with the same pathogenic variant. We report a family of five affected individuals with notable phenotypic variability who appear to have two distinct molecular causes of LDS, one attributable to a missense variant in and the other an intronic variant 6 bp upstream from a splice junction in .

Effect of Medium Chain Triglycerides and Whey Protein Isolate Preloads on Glycaemia in Type 2 Diabetes: A randomised crossover study.

Background: Small nutritional preloads can reduce postprandial glucose excursions in individuals with and without metabolic syndrome or T2D. However, most studies have focused on preloads administered before single meals and have predominantly used protein-based preloads.

Objective: To investigate the effects of sequential consumption of medium chain triglycerides (MCT) and whey protein isolate (WPI) preloads before breakfast lunch and dinner on postprandial, diurnal and 24h glycaemia in individuals with T2D.

Investigating Falls Risk Awareness in Hospitals Using the Self-Awareness of Falls Risk Measure (SAFRM): Empirical Research Quantitative.

Aim: The overarching aim of this study was to explore patients' falls risk awareness in hospitals using section A of the validated Self Awareness of Falls Risk Measure (SAFRM).

Design: Descriptive cross-sectional study design.

Setting: Three rural/regional hospitals in the State of Victoria, Australia.

Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.

Aim: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period.

Method: We analyzed longitudinal neurodevelopmental outcomes from a prospective natural history study of DEE25, using standardized assessments of Mullen Scales of Early Learning, Peabody Developmental Motor Scales, and Vineland Adaptive Behavior Scales.

Results: There was significant global impairment across the cohort, with variable quality of life and limited genotype-phenotype correlation.

Upper Urinary Tract Stereotactic Body Radiotherapy Using a 1.5 Tesla Magnetic Resonance Imaging-Guided Linear Accelerator: Workflow and Physics Considerations.

Advancements in radiotherapy technology now enable the delivery of ablative doses to targets in the upper urinary tract, including primary renal cell carcinoma (RCC) or upper tract urothelial carcinomas (UTUC), and secondary involvement by other histologies. Magnetic resonance imaging-guided linear accelerators (MR-Linacs) have shown promise to further improve the precision and adaptability of stereotactic body radiotherapy (SBRT). This single-institution retrospective study analyzed 34 patients (31 with upper urinary tract non-metastatic primaries [RCC or UTUC] and 3 with metastases of non-genitourinary histology) who received SBRT from August 2020 through September 2024 using a 1.