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BMJ Open
January 2025
Department of Dermatology, Bispebjerg Hospital, Copenhagen, Denmark.
Introduction: Omalizumab, an anti-IgE monoclonal antibody, is effective in treating antihistamine-refractory chronic spontaneous urticaria (CSU). However, tapering strategies for omalizumab are currently not well-studied, and patients may be treated longer than needed. Here, we present the rationale and design of the EXtending Omalizumab Treatment Intervals in patients with Chronic spontaneous urticaria trial, a multicentre, randomised, open-label, non-inferiority clinical trial.
View Article and Find Full Text PDFAndes Pediatr
October 2024
Departamento de Neuropediatría, Hospital Fundación Alcorcón, Madrid, España.
Unlabelled: Congenital myotonic dystrophy type 1 (DM1) is a rare entity that can pose a diagnostic challenge, especially if other processes such as prematurity coexist.
Objective: to describe the typical presentation of congenital DM1 and thus increase diagnostic suspicion.
Clinical Case: A 29-week preterm female newborn who required non-invasive mechanical ventilation until 41 weeks postmenstrual age; she presented with apnea requiring manual ventilation with a self-inflating bag and cardiac massage.
Front Genet
December 2024
Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent relaxation of the muscle, and its dysfunction leads to impaired muscle relaxation after voluntary or evoked contraction and muscle stiffness. More than 300 pathogenic variants have been found in association with congenital myotonia, inherited as recessive or dominant traits (with complete or incomplete penetrance).
View Article and Find Full Text PDFNutrients
November 2024
Department of Respiratory Medicine, Copenhagen University Hospital-Amager and Hvidovre, 2650 Hvidovre, Denmark.
Background: Atopic dermatitis (AD) is a chronic inflammatory skin disease affecting up to 20% of children and 10% of adults worldwide. Current research suggests a correlation between serum vitamin D level and AD severity and that vitamin D supplementation could have a potential therapeutic effect on AD.
Objectives: To conduct a systematic review and meta-analysis of studies of vitamin D supplementation for disease improvement in children and adults with AD.
J Am Acad Dermatol
December 2024
Department of Dermatology, University of California, San Francisco, San Francisco, California. Electronic address:
While genetic predisposition and immune dysregulation are recognized as key contributors to the development of hidradenitis suppurativa, accumulating research points to the influence of extrinsic factors in the pathogenesis of this condition. This review explores the roles of mechanical stress, altered skin and gut microbiome, tobacco smoking, diet, and paradoxical drug reactions as drivers of hidradenitis suppurativa onset and progression. A holistic management approach addressing these factors may be encouraged to improve disease outcomes.
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