5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.

Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no consensus within the SMA treatment community regarding early treatment initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis of 268 patients with 4 copies of SMN2 from the SMArtCARE registry in Germany, Austria and Switzerland.

Comanagement of Rashes by Primary Care Providers and Dermatologists: A Retrospective Study.

Background: There is a high demand for managing skin disease, and dermatologists are in short supply.

Objectives: To better understand how rashes and other specific skin conditions are co-managed by primary care providers (PCPs) and dermatologists, we estimated the frequency with which PCPs sought consultation with or referral to dermatology and the proportion of patients who had a follow-up dermatology office visit in the following 90 days.

Design And Setting: The retrospective longitudinal study included 106,459 patients with a skin condition diagnosed by 3,830 PCPs, from January 2017 to March 2017.

Association of teledermatology workflows with standardising co-management of rashes by primary care physicians and dermatologists.

Introduction: For patients with a rash, the effect of teledermatology workflow on utilization has not been defined. We compared utilization across four teledermatology workflows in patients with a rash.

Methods: The observational longitudinal cohort study included 28,857 Kaiser Permanente Northern California members with a new rash diagnosis seen in primary care and with dermatology advice obtained using teledermatology.

Comparative effectiveness study of face-to-face and teledermatology workflows for diagnosing skin cancer.

Background: The effectiveness and value of teledermatology and face-to-face workflows for diagnosing lesions are not adequately understood.

Objective: We compared the risks of biopsy and cancer diagnosis among 2 face-to-face workflows (direct referral and roving dermatologist) and 4 teledermatology workflows.

Methods: Retrospective study of 59,279 primary care patients presenting with a lesion from January through June 2017.

Cardiomyopathy in Duchenne Muscular Dystrophy: Current Value of Clinical, Electrophysiological and Imaging Findings in Children and Teenagers.

Background: Progressive cardiomyopathy (CMP) is one main cause of death in DMD. This cross-sectional assessment of different cardiac diagnostic procedures focusses on preterm diagnosis of cardiac dysfunction.

Patients: 39 male DMD patients aged 6-20 years were included.