Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.

Background: Plectinopathy-associated disorders are caused by mutations in the gene encoding Plectin protein. mutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and plectinopathy-related disorder is limb-girdle muscular dystrophy type 2Q (LGMD2Q). Here we report three cases with EBS-MD and LGMD2Q disorders analyzed by exome sequencing followed by mutation confirmation.

App-based assessment of patient-reported outcomes in the Molecular Tumor Board in the Center for Personalized Medicine-(TRACE).

Background: Biomarker-based therapies are increasingly used in cancer patients outside clinical trials. Systematic assessment of patient-reported outcomes (PRO) is warranted to take patients' perspectives during biomarker-based therapies into consideration. We assessed the feasibility of an electronic PRO assessment via a smartphone application.

Role of CT attenuation correction gated SPECT MPI in prediction of pulmonary hypertension.

Objective: To elucidate the value of gated SPECT-MPI using CT attenuation correction (AC) for prediction of pulmonary hypertension (PHT) in coronary patients by estimation of reliability of non-contrast CT in measurement of main pulmonary artery diameter (MPAd) as well as by assessment of potential predictive role of gated parameters as beneficial accessory findings.

Background: Contrast-enhanced CT is known as an accurate tool for assessment of MPAd to predict PHT. [1] The low-dose non-contrast CT which is used for AC in MPI study, however, has an unclear value in precise vascular diameter measurement; it is also uncertain whether gated parameters could help to predict PHT.

Chromosome-level organization of the regulatory genome in the Drosophila nervous system.

Previous studies have identified topologically associating domains (TADs) as basic units of genome organization. We present evidence of a previously unreported level of genome folding, where distant TAD pairs, megabases apart, interact to form meta-domains. Within meta-domains, gene promoters and structural intergenic elements present in distant TADs are specifically paired.