Pharmaceutical demand response to utilization management.

Prescription drug insurance increasingly imposes prior authorization (requiring providers to request coverage before claim approval) to manage utilization. Prior authorization has been criticized because of its administrative burden on providers. The primary alternative to managing utilization is imposing out-of-pocket (OOP) payment to incentivize beneficiaries to seek lower-cost care, effectively providing beneficiaries with partial insurance.

Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.

Background: Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. Based on the level of separation within the dermal-epidermal junction, EB is sub-classified into four major types including EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB) with 16 EB-associated genes reported to date.

Methods: We ascertained a cohort of 151 EB patients of various Middle Eastern ethnic backgrounds.

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.

Frontonasal dysplasia (FND) refers to a group of rare developmental disorders characterized by abnormal morphology of the craniofacial region. We studied a family manifesting with clinical features typical for FND2 including neurobehavioral abnormalities, hypotrichosis, hypodontia, and facial dysmorphism. Whole-exome sequencing analysis identified a novel heterozygous frameshift insertion in ALX4 (c.

MicroRNA-200b-mediated reversion of a spectrum of epithelial-to-mesenchymal transition states in recessive dystrophic epidermolysis bullosa squamous cell carcinomas.

Background: Cutaneous squamous cell carcinoma (SCC) is the leading cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, the survival time from first diagnosis differs between patients; some tumours spread particularly fast, while others may remain localized for years. As treatment options are limited, there is an urgent need for further insights into the pathomechanisms of RDEB tumours, to foster therapy development and support clinical decision-making.

Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma.

Background: The abnormal function of epidermal growth factor receptor (EGFR) has recently been shown to underlie various disorders of cornification.

Objectives: To delineate the genetic basis of a novel dominant form of palmoplantar keratoderma (PPK).

Methods: Whole-exome (WES) and direct sequencing, quantitative real-time polymerase chain reaction, protein modelling, confocal immunofluorescence microscopy, immunoblotting, three-dimensional skin equivalents and an enzyme activity assay were used to delineate the genetic basis of a novel dominant form of PPK.