Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort.

We aimed at investigating the presence of patterns that account for the phenotypic variability in a myotonic dystrophy type 2 (DM2) retrospective cohort at the Mass General Brigham Neuromuscular Centers. We collected the presence or absence of 23 clinical variables at symptom onset and diagnosis (n = 67 patients) and follow-up (n = 37 patients). We first identified set/s of variables (factors or cluster/s) representative of the large research data pool at onset by performing factor analyses, then assigned each patient to the cluster for which they had the highest computed total factor score.

BAG-3 Mutation Dilated Cardiomyopathy With Left Ventricular Noncompaction in Young Healthy Adult.

Cardiomyopathies are generally divided into ischemic and nonischemic types. Dilated cardiomyopathies, which are a type of nonischemic cardiomyopathy, may have a trait of left ventricular noncompaction. We present the case of a 34-year-old man with new-onset decompensated heart failure and left ventricular noncompaction from a BAG3 (Bcl-2 associated athanogene 3) truncating mutation.

Calcium-Dependent Chemiluminescence Catalyzed by a Truncated c-MYC Promoter G-Triplex DNA.

The dynamic landscape of non-canonical DNA G-quadruplex (G4) folding into G-triplex intermediates has led to the study of G-triplex structures and their ability to serve as peroxidase-mimetic DNAzymes. Here we report the formation, stability, and catalytic activity of a 5'-truncated promoter region G-triplex, c-MYC-G3. Through circular dichroism, we demonstrated that c-MYC-G3 adopts a stable, parallel-stranded G-triplex conformation.

Pre-contoured patient-specific rods result in superior immediate sagittal plane alignment than surgeon contoured rods in adolescent idiopathic scoliosis.

Background: Adolescent idiopathic scoliosis (AIS) surgery typically involves posterior spinal fusion (PSF) using rods contoured by the surgeon, which may be time-consuming and may not reliably restore optimal sagittal alignment. However, pre-contoured patient-specific rods may more optimally restore sagittal spinal alignment. This study evaluates the radiographic outcomes of AIS patients who underwent PSF utilizing surgeon contoured pre-contoured rods.