Relapsing Polychondritis

Adult-onset STING-associated vasculopathy.

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…

Assessing post-cold challenge recovery of thermography as a potential outcome measure in trials of SSc-related Raynaud's phenomenon.

Improved new medications for systemic sclerosis-related Raynaud's phenomenon (SSc-RP) are badly needed and better objective outcomes are required to enable this. Thermography imaging of hand cold-challenge offers potential as an outcome measure. To ensure standardisation between pre- and post-dose c…

A proof of concept case series of botulinum toxin a treatment for ischemic feet due to Raynaud's phenomenon.

Botulinum Toxin A (BTX-A) has shown benefit in treating Raynaud's phenomenon (RP) of the hands, but its use in the feet remains largely unreported. We present a retrospective case series of seven patients undergoing 11 BTX-A treatment sessions for refractory ischemic RP of the feet. Injections (100-…

Aseptic Abscess Syndrome Associated With Relapsing Polychondritis-A Rarely Reported Association.

VEXAS syndrome: a comprehensive clinicopathologic and genetic analysis of a predominantly Indian cohort.

VEXAS syndrome is a recently recognized, acquired monogenic adult onset hemato-inflammatory syndrome characterized by somatic mutations within the UBA1 gene. The acronym VEXAS stands for vacuoles, E1 enzyme, X-linked inheritance, autoinflammatory tendencies, and somatic mutations. It presents as a s…

Beyond the wheeze: unveiling a rare diagnosis behind the asthma mask.

A 64-year-old male presented with progressive breathlessness and wheezing, initially suspected to be worsening asthma. Inhaled therapies were commenced and further investigations were conducted, including CT thorax, bronchoscopy, pulmonary function tests and autoimmune screening. Imaging revealed tr…

Repeated intravesical platelet-rich plasma injections alleviate symptoms via T-cell modulation and mitochondrial dysfunction in non-ulcer interstitial cystitis/bladder pain syndrome.

Repeated intravesical injections of autologous platelet-rich plasma (PRP) have shown promise in alleviating symptoms of non-ulcer interstitial cystitis bladder pain syndrome (IC/BPS), but the underlying mechanisms remain unclear. In this single-center prospective study, 80 patients received four mon…

VEXAS syndrome in adults: A narrative review of genomic pathogenesis, multisystem phenotypes, diagnostic algorithms, and emerging therapeutic strategies.

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently defined adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene. This narrative review synthesizes current insights into its epidemiology, pathogenesis, clinical spectrum, diagnostic st…