Biallelic mutations in the CFHR genes underlying atypical hemolytic uremic syndrome in a patient with catastrophic adult-onset Still's disease and recurrent macrophage activation syndrome: A case report.

We report the fatal case of a 20-year-old woman with refractory adult-onset Still's disease (AOSD) accompanied by fulminant macrophage activation syndrome (MAS) and atypical hemolytic uremic syndrome (aHUS). Anakinra and tocilizumab temporarily controlled AOSD. In 2021, she presented to ICU with generalized tonic-clonic seizure, lymphocytic aseptic meningitis, and acute kidney injury.

Diagnostic accuracy and validation of F-fluorodeoxyglucose positron emission tomography scores in a large cohort of patients with polymyalgia rheumatica.

Background: Several studies have shown that F-FDG PET may contribute to the diagnosis of polymyalgia rheumatica (PMR). Previously, we developed a composite PET score called the Leuven score, which was recently adapted to the more concise Leuven/Groningen score by van der Geest et al. The aim of this study is to validate and compare the diagnostic accuracy and cut-off points of both scores in a large cohort of PMR patients.

Impact of age at diagnosis in polymyalgia rheumatica: A retrospective cohort study of 218 patients.

Background: Polymyalgia rheumatica (PMR) is a common musculoskeletal inflammatory disease that may occur with giant-cell arteritis (GCA) or in an isolated form. While the incidence is highest in the elderly, there is a paucity of data on its presentation, clinical course and response to treatment in younger individuals.

Methods: We conducted a retrospective review of 40 patients who were diagnosed with isolated PMR under the age of 60 and 178 patients diagnosed above this age, taking into account clinical and laboratory data and treatment history.

Papillary thyroid carcinoma presenting with severe Guillain-Barré syndrome.

Background: The Guillan-Barré syndrome (GBS) is the most common acute disease of the peripheral nervous system, often necessitating ICU care. Although no clear paraneoplastic syndrome has been defined, it has been known to occur together with several types of cancer.

Methods: We present the case of a 35-year-old man with acute flaccid paralysis and cervical lymphadenopathy.