Defining the glenohumeral range of motion required for overhead shoulder mobility: an observational study.

Background: Recovery of overhead mobility after shoulder surgery is time-consuming and important for patient satisfaction. Overhead stretching and mobilization of the scapulothoracic and glenohumeral (GH) joints are common treatment interventions. The isolated GH range of motion (ROM) of flexion, abduction, and external rotation required to move above 120° of global shoulder flexion in the clinical setting remains unclear.

Long-read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities.

Despite advances in next generation sequencing (NGS), genetic diagnoses remain elusive for many patients with neurologic syndromes. Long-read sequencing (LRS) and optical genome mapping (OGM) technologies improve upon existing capabilities in the detection and interpretation of structural variation in repetitive DNA, on a single haplotype, while also providing enhanced breakpoint resolution. We performed LRS and OGM on two patients with known chromosomal rearrangements and inconclusive Sanger or NGS.

Management of the refractory nocturnal enuresis patient to desmopressin in a pediatric population: Desmopressin + oxybutynin vs. desmopressin + imipramine.

Introduction And Objective: Desmopressin is well accepted as first-line medical therapy for enuresis. If ineffective, combination therapy of desmopressin + oxybutynin or desmopressin + imipramine has been used. This study assessed the efficacy of adjunct therapy with either imipramine or oxybutynin in the management of enuresis patients who failed desmopressin treatment.