Burden among participants with central disorders of hypersomnolence in six European countries.
Narcolepsy types 1 and 2 (NT1/NT2) and idiopathic hypersomnia (IH) are central disorders of hypersomnolence (CDHs) that significantly impact patients' quality of life (QoL). We investigated the recent medication use, comorbidities, and clinical burden among participants with CDHs from six European c…
Comparison of heart rate responses at respiratory event termination in children referred for assessment of hypersomnolence.
Adult studies have linked disorders of hypersomnolence to impaired heart rate (HR) control. We examined HR changes during obstructive and central respiratory events in children referred for assessment of hypersomnolence compared to controls. 20 children diagnosed with narcolepsy, 7 with idiopathic h…
Haploinsufficiency of A20 (HA20) is a primary immune regulation disease caused by heterozygous loss-of-function variants in TNFAIP3, resulting in unchecked inflammatory signaling. HA20 is a highly heterogeneous disorder with overlapping features of autoinflammation, autoimmunity, immunodeficiency, a…
Genetic contributions to systemic autoimmunity are often considered more significant in children than in adults. As such, genetic evaluation may be more frequently pursued in pediatric rheumatology patients. Motivated by the discovery of a STING-associated vasculopathy with onset in infancy (SAVI) m…
A Case of False-Positive Treponema Pallidum Immunohistochemistry and Review of Syphilis Testing as It Pertains to Dermatologists.
A 76-year-old man presented with a persistent pruritic eruption initially diagnosed as Grover disease, unresponsive to topical corticosteroids, and only partially responsive to systemic steroids. During the course of several months, serial skin biopsies revealed spongiotic dermatitis with increasing…
Living Donor Kidney Transplantation in High-Recurrence Kidney Diseases: Precision Risk Stratification and Management.
Living-donor kidney transplantation (KT) offers the best outcomes for patients with kidney failure (KF). However, recurrence of primary kidney disease in the allograft remains a major concern and represents 1 of the leading causes of graft loss, significantly influencing donor and recipient selectio…
Home-based postural exercise as an adjunct to duloxetine improves sleep quality, physical quality of life, and trunk mobility in fibromyalgia: a randomized controlled trial.
In fibromyalgia syndrome (FMS), current guidelines recommend combining pharmacological treatments such as duloxetine with exercise interventions. This randomized controlled trial aimed to evaluate the effectiveness of a home-based postural exercise program as an adjunct to pharmacological treatment…
Assessment of readiness in the diagnosis and management of central disorders of hypersomnolence: A survey of sleep medicine program directors and fellowship graduates.
Central disorders of hypersomnolence (CDH), including narcolepsy, idiopathic hypersomnia, and recurrent hypersomnia, are rare conditions that pose challenges in sleep medicine fellowship training. Limited exposure to these disorders, variability in training experiences, and growing complexity of dia…