Investigation of cardiac substructure automatic segmentation methods on synthetically generated 4D cone-beam CT images.

Background: STereotactic Arrhythmia Radioablation (STAR) is a novel noninvasive method for treating arrythmias in which external beam radiation is directed towards subregions of the heart. Challenges for accurate STAR targeting include small target volumes and relatively large patient motion, which can lead to radiation related patient toxicities. 4D Cone-beam CT (CBCT) images are used for stereotactic lung treatments to account for respiration-related patient motion.

Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.

Background: Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of proteins and/or lipids. Multiple pathogenic genes contribute to the varying reported phenotypes of individuals with CDG-1 syndromes, most of which are inherited as autosomal recessive traits, although X-linked inheritance has also been reported. Pathogenic variants in the asparagine-linked glycosylation 13 homolog (ALG13) gene have been implicated in the aetiology of developmental and epileptic encephalopathy (DEE) 36 (OMIM:*300776, DEE36).

Overview of cardiac toxicity from radiation therapy.

Radiotherapy is an essential part of treatment for many patients with thoracic cancers. However, proximity of the heart to tumour targets can lead to cardiac side effects, with studies demonstrating link between cardiac radiation dose and adverse outcomes. Although reducing cardiac dose can reduce associated risks, most cardiac constraint recommendations in clinical use are generally based on dose to the whole heart, as dose assessment at cardiac substructure levels on individual patients has been limited historically.