34 research outputs found

    The Pediatric Cell Atlas:Defining the Growth Phase of Human Development at Single-Cell Resolution

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    Single-cell gene expression analyses of mammalian tissues have uncovered profound stage-specific molecular regulatory phenomena that have changed the understanding of unique cell types and signaling pathways critical for lineage determination, morphogenesis, and growth. We discuss here the case for a Pediatric Cell Atlas as part of the Human Cell Atlas consortium to provide single-cell profiles and spatial characterization of gene expression across human tissues and organs. Such data will complement adult and developmentally focused HCA projects to provide a rich cytogenomic framework for understanding not only pediatric health and disease but also environmental and genetic impacts across the human lifespan

    The Human Cell Atlas White Paper

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    The Human Cell Atlas (HCA) will be made up of comprehensive reference maps of all human cells - the fundamental units of life - as a basis for understanding fundamental human biological processes and diagnosing, monitoring, and treating disease. It will help scientists understand how genetic variants impact disease risk, define drug toxicities, discover better therapies, and advance regenerative medicine. A resource of such ambition and scale should be built in stages, increasing in size, breadth, and resolution as technologies develop and understanding deepens. We will therefore pursue Phase 1 as a suite of flagship projects in key tissues, systems, and organs. We will bring together experts in biology, medicine, genomics, technology development and computation (including data analysis, software engineering, and visualization). We will also need standardized experimental and computational methods that will allow us to compare diverse cell and tissue types - and samples across human communities - in consistent ways, ensuring that the resulting resource is truly global. This document, the first version of the HCA White Paper, was written by experts in the field with feedback and suggestions from the HCA community, gathered during recent international meetings. The White Paper, released at the close of this yearlong planning process, will be a living document that evolves as the HCA community provides additional feedback, as technological and computational advances are made, and as lessons are learned during the construction of the atlas

    Picture of the Month—Quiz Case

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    Dermatologic considerations for transgender and gender diverse youth

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    Sexual and gender minority individuals, including transgender and gender diverse people, are an underserved and vulnerable population in the field of dermatology. While the unique dermatologic needs for adult patients in this group are increasingly documented, the knowledge surrounding pediatric and adolescent transgender/gender diverse patients is lacking. We aim to summarize the unique dermatologic needs of transgender/gender diverse patients, with particular attention paid to the data available in younger groups. This review highlights the unique role pediatric dermatologists can play in the care of transgender and gender diverse youth including but not limited to treating acne and hair pattern changes as well as being knowledgeable about surgical and other cosmetic options for gender affirmation. It also highlights areas for potential future research including dermatologic effects of hormone therapy in children as well as treatments for those side effects

    Loose Anagen Syndrome: A Retrospective Chart Review of 37 Cases.

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    BACKGROUND/OBJECTIVES: Loose anagen syndrome (LAS) is a disorder of abnormal anchorage of the hair to the scalp. Its symptoms include an inability to grow hair long and hair that is easily pulled out. METHODS: We conducted a retrospective chart review of patients with LAS over the last 10 years at the Children\u27s Hospital of Philadelphia and found 37 cases. RESULTS: LAS was more common in females and was found in all hair colors and skin types. CONCLUSION: Diagnosis of LAS should be made based on history, microscopic findings, and hair bulb and shaft features

    A Review of the Use of Biotin for Hair Loss.

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    BACKGROUND: Biotin has gained commercial popularity for its claimed benefits on healthy hair and nail growth. Despite its reputation, there is limited research to support the utility of biotin in healthy individuals. OBJECTIVE: To systematically review the literature on biotin efficacy in hair and nail growth. METHODS: We conducted a PubMed search of all case reports and randomized clinical trials (RCTs) using the following terms: (biotin and hair); (biotin and supplementation and hair); (biotin supplementation); (biotin and alopecia); (biotin and nails); (biotin and dermatology), and (biotin recommendations). RESULTS: We found 18 reported cases of biotin use for hair and nail changes. In all cases, patients receiving biotin supplementation had an underlying pathology for poor hair or nail growth. All cases showed evidence of clinical improvement after receiving biotin. CONCLUSIONS: Though its use as a hair and nail growth supplement is prevalent, research demonstrating the efficacy of biotin is limited. In cases of acquired and inherited causes of biotin deficiency as well as pathologies, such as brittle nail syndrome or uncombable hair, biotin supplementation may be of benefit. However, we propose these cases are uncommon and that there is lack of sufficient evidence for supplementation in healthy individuals
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