Publications by authors named "Elana Kleinman"
Background: Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable widespread blistering skin disorder caused by mutations in the gene encoding for type VII collagen (C7), the major component of anchoring fibrils.
Objectives: To evaluate the efficacy and safety of intravenous (IV) gentamicin readthrough therapy in patients with RDEB harbouring nonsense mutations. The primary outcomes were increased expression of C7 in patients' skin and safety assessments (ototoxicity, nephrotoxicity, autoimmune response); secondary outcomes included measuring wound healing in target wounds and assessment by a validated Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) scoring system.
Introduction: Melanocytic nevi present microscopic patterns, which differ in their associated melanoma risk, and can be non-invasively recognized under Reflectance Confocal Microscopy (RCM).
Aims: To train a Generative Adversarial Network (GAN) deep-learning model to produce synthetic images that recapitulate RCM patterns of nevi, enabling reliable classification by human readers and by a Convolutional Neural Network (CNN) computer model.
Methods: A dataset of RCM images of nevi, presenting a uniform pattern, were chosen and classified into one of three patterns - Meshwork, Ring or Clod.
Background: Treatment management for congenital melanocytic nevi (CMN) on the face (FCMN) is highly variable and requires a thorough assessment of multiple factors. To date, a systematic review of FCMN treatment is lacking. The purpose of the present study was to elucidate the frequency, variety, and outcomes of treatment modalities for FCMN with different levels of complexity.
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- The study focuses on caregiver satisfaction and experiences with G-tubes in children with epidermolysis bullosa (EB), highlighting the benefits of this nutritional support intervention despite initial parental apprehension.
- Conducted through an anonymous 89-item online survey among caregivers from nine institutions, the findings revealed that most caregivers reported high satisfaction levels (90%) post-G-tube placement and some wished they had adopted it earlier.
- Results indicate improved mealtime experiences for both caregivers and children with EB after G-tube insertion, suggesting that caregiver feedback can guide future research and practices in managing G-tubes.
Background: We report a 3-month-old female with cardiovascular anomalies and diffuse intestinal infantile hemangioma (IIH) of the small bowel suggesting possible diagnosis of PHACE syndrome (posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities/coarctation of the aorta, eye anomalies). The GI symptoms persisted under treatment with propranolol, whereas the addition of sirolimus led to regression of the IIH.
Methods: A systematic review was conducted using PubMed, EMBASE, and Ovid MEDLINE databases between 1982 and 2021.
Atopic dermatitis (AD) is a chronic inflammatory skin condition that can have tremendous impact on quality of life for affected children and adults. First-line therapy for acute management of AD includes topical therapies such as corticosteroids, calcineurin inhibitors, and, more recently, the phosphodiesterase inhibitor crisaborole. Topical agents have remained the mainstay therapy for decades; however, there has been a longstanding need for topical therapies with high efficacy and low risk of adverse effects with long-term use.
View Article and Find Full Text PDFAtopic dermatitis (AD) is a very common skin disease associated with substantial burdens on patient health and quality of life. Knowledge regarding the pathogenesis of AD has expanded within recent years, leading to novel and efficacious therapeutic agents. Similarly, our knowledge of the impact of AD on patient's mental and physical health has also expanded.
View Article and Find Full Text PDFBackground: The morphology of benign pigmented lesions on the ears has been scarcely studied.
Methods: We prospectively screened all patients presenting to a pigmented lesion clinic at a tertiary academic hospital, between November 2015 and August 2016, for the presence of benign pigmented ear lesions. Clinical and dermoscopic images were obtained for all lesions.