Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N-terminal domain, the Rod domain, and the C-terminal domain. Molecular defects of PLEC correlating with the functional aspects lead to a group of rare heritable disorders, plectinopathies.
View Article and Find Full Text PDFDST encodes bullous pemphigoid antigen-1 (BPAG1), a protein with eight tissue-specific isoforms expressed in the skin, muscle, brain and nerves. Accordingly, mutations in this gene are associated with epidermolysis bullosa simplex (EBS) and hereditary sensory and autonomic neuropathy type 6 (HSAN-VI). The genotypic spectrum is attested to by 19 distinct mutations but genotype-phenotype correlation for both disorders is not well established.
View Article and Find Full Text PDFThe accelerated implementation and use of teledermatology during the coronavirus disease 2019 pandemic has met with successes and challenges. This review explores how telemedicine was used in dermatology before the pandemic, the regulatory adaptions made in response to the pandemic, and the effectiveness of the rapid implementation of teledermatology during the coronavirus disease 2019 pandemic, and, finally, how teledermatology has expanded in response to the pandemic. This review examines lessons learned and how teledermatology's reliance on digital technologies might paradoxically exacerbate health care disparities, and finally, considers the future outlook.
View Article and Find Full Text PDFIntroduction Health care cost is projected to reach 20% of the nation's gross national product (GNP) by 2016. 6.2% of this is from mental health.
View Article and Find Full Text PDFIntroduction Patients with serious mental illness (SMI) experience highly intractable symptoms and great levels of dysfunction from their mental illness. Relapse prevention is critical as psychopathology, social and occupational functioning worsen with repeated psychotic episodes. Poor medication adherence is a strong predictor of relapse.
View Article and Find Full Text PDFEpidermolysis bullosa (EB) is a genotypically heterogeneous group of disorders characterized by cutaneous blistering and erosions with a tremendous spectrum of severity. One of the distinct forms of EB, Kindler EB (KEB), manifests with blistering and poikiloderma; this subtype of EB is caused by mutations in the FERMT1 gene encoding kindlin-1. In this study, we investigated a patient clinically diagnosed as KEB with reduced FERMT1 gene expression and intensity of immunostaining for kindlin-1.
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