Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

Alsharief, Alaa N.; Laxer, Ronald M.; Wang, Qiuyan; Stimec, Jennifer; Man, Carina; Babyn, Paul; Doria, A.

doi:10.1186/s13244-020-00889-0

Cited by 3 publications

(2 citation statements)

References 57 publications

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“…Recurrent flares or mild to severe systemic inflammation and fever including episodic fever, urticaria-like rash, and joint involvement Increased activation of the NLRP3inflammasome and overproduction of IL-1β was associated with mutations in the NLRP3 gene Azizi et al 269 Neonatal onset multisystem inflammatory disease (NOMID) Fever, rash, and tissue damage of the nervous system, skin, and joints Mutations in the CIAS1/NLRP3 gene Alsharief et al 270 ; Huttenlocher et al 271 Deficiency of the interleukin-1receptor antagonist (DIRA)…”

Section: Urticarial Disordersmentioning

confidence: 99%

Promising Natural Products in New Drug Design, Development, and Therapy for Skin Disorders: An Overview of Scientific Evidence and Understanding Their Mechanism of Action

Zaid¹,

Sekar²,

Bonam³

et al. 2022

DDDT

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The skin is the largest organ in the human body, composed of the epidermis and the dermis. It provides protection and acts as a barrier against external menaces like allergens, chemicals, systemic toxicity, and infectious organisms. Skin disorders like cancer, dermatitis, psoriasis, wounds, skin aging, acne, and skin infection occur frequently and can impact human life. According to a growing body of evidence, several studies have reported that natural products have the potential for treating skin disorders. Building on this information, this review provides brief information about the action of the most important in vitro and in vivo research on the use of ten selected natural products in inflammatory, neoplastic, and infectious skin disorders and their mechanisms that have been reported to date. The related studies and articles were searched from several databases, including PubMed, Google, Google Scholar, and ScienceDirect. Ten natural products that have been reported widely on skin disorders were reviewed in this study, with most showing anti-inflammatory, antioxidant, anti-microbial, and anti-cancer effects as the main therapeutic actions. Overall, most of the natural products reported in this review can reduce and suppress inflammatory markers, like tumor necrosis factor-alpha (TNF-α), scavenge reactive oxygen species (ROS), induce cancer cell death through apoptosis, and prevent bacteria, fungal, and virus infections indicating their potentials. This review also highlighted the challenges and opportunities of natural products in transdermal/topical delivery systems and their safety considerations for skin disorders. Our findings indicated that natural products might be a low-cost, welltolerated, and safe treatment for skin diseases. However, a larger number of clinical trials are required to validate these findings. Natural products in combination with modern drugs, as well as the development of novel delivery mechanisms, represent a very promising area for future drug discovery of these natural leads against skin disorders.

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Section: Urticarial Disordersmentioning

confidence: 99%

Promising Natural Products in New Drug Design, Development, and Therapy for Skin Disorders: An Overview of Scientific Evidence and Understanding Their Mechanism of Action

Zaid¹,

Sekar²,

Bonam³

et al. 2022

DDDT

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show abstract

“…Currently, AIDs include monogenic syndromes as well as polygenic and multifactorial diseases [ 19 ]. AIDs monogenic syndromes are hereditary diseases due to mutations in a single gene that are characterized by childhood onset, recurrent episodes of fever, skin manifestations, and disease-specific patterns of organ inflammation [ 20 ]. Multifactorial polygenic diseases comprise conditions possessing a clear autoinflammatory aetiology but with no specific monogenic identified cause, in which interactions between gene alterations, environment, and lifestyle contribute to the development of the disease.…”

Section: Introductionmentioning

confidence: 99%

Notch Signaling Regulation in Autoinflammatory Diseases

Gratton

Tricarico

D’Adamo

et al. 2020

IJMS

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Notch pathway is a highly conserved intracellular signaling route that modulates a vast variety of cellular processes including proliferation, differentiation, migration, cell fate and death. Recently, the presence of a strict crosstalk between Notch signaling and inflammation has been described, although the precise molecular mechanisms underlying this interplay have not yet been fully unravelled. Disruptions in Notch cascade, due both to direct mutations and/or to an altered regulation in the core components of Notch signaling, might lead to hypo- or hyperactivation of Notch target genes and signaling molecules, ultimately contributing to the onset of autoinflammatory diseases. To date, alterations in Notch signaling have been reported as associated with three autoinflammatory disorders, therefore, suggesting a possible role of Notch in the pathogenesis of the following diseases: hidradenitis suppurativa (HS), Behçet disease (BD), and giant cell arteritis (GCA). In this review, we aim at better characterizing the interplay between Notch and autoinflammatory diseases, trying to identify the role of this signaling route in the context of these disorders.

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Pediatric uveitis: Role of the pediatrician

et al. 2022

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The challenges of childhood uveitis lie in the varied spectrum of its clinical presentation, the often asymptomatic nature of disease, and the evolving nature of the phenotype alongside normal physiological development. These issues can lead to delayed diagnosis which can cause significant morbidity and severe visual impairment. The most common ocular complications include cataracts, band keratopathy, glaucoma, and macular oedema, and the various associated systemic disorders can also result in extra-ophthalmic morbidity. Pediatricians have an important role to play. Their awareness of the various presentations and etiologies of uveitis in children afford the opportunity of prompt diagnosis before complications arise. Juvenile Idiopathic Arthritis (JIA) is one of the most common associated disorders seen in childhood uveitis, but there is a need to recognize other causes. In this review, different causes of uveitis are explored, including infections, autoimmune and autoinflammatory disease. As treatment is often informed by etiology, pediatricians can ensure early ophthalmological referral for children with inflammatory disease at risk of uveitis and can support management decisions for children with uveitis and possible underling multi-system inflammatory disease, thus reducing the risk of the development of irreversible sequelae.

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Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

Cited by 3 publications

References 57 publications

Promising Natural Products in New Drug Design, Development, and Therapy for Skin Disorders: An Overview of Scientific Evidence and Understanding Their Mechanism of Action

Promising Natural Products in New Drug Design, Development, and Therapy for Skin Disorders: An Overview of Scientific Evidence and Understanding Their Mechanism of Action

Notch Signaling Regulation in Autoinflammatory Diseases

Pediatric uveitis: Role of the pediatrician

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