Publications by authors named "R O Waelchli"

The JAK kinases JAK1, JAK2, JAK3, and TYK2 play key roles in cytokine signaling. Activation of the JAK/STAT pathways is linked to many diseases involving the immune system, including atopic dermatitis. As systemic JAK inhibitor pharmacology is associated with side effects, topical administration to the skin has been considered to locally restrict the site of action.

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Purpose: Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach.

Methods: Whole-genome copy-number findings in patients with melanoma predisposition syndrome congenital melanocytic nevus were extrapolated to a sporadic melanoma cohort.

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Article Synopsis
  • Sleep problems in infants treated with propranolol for hemangiomas may indicate potential central nervous system effects; however, this study objectively compares the sleep behavior of treated infants with healthy controls.
  • The study involved 54 infants in both groups monitored for sleep using actigraphy and diaries over 7-10 days at 3 and 6 months; findings at 6 months showed treated infants had decreased sleep efficiency and more nighttime awakenings.
  • Despite these changes, 24-hour total sleep remained stable, and no negative impact on subjective sleep quality or behavioral development was observed, supporting the use of propranolol as a first-line treatment for infantile hemangiomas.
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