Case report: diagnosis of VEXAS syndrome in a patient with therapy-resistant large vessel vasculitis.

VEXAS (Vacuoles, E1 enzyme, X-linked, Auto-Inflammatory, Somatic) syndrome is a recently identified multisystemic auto-inflammatory condition caused by somatic mutations in the UBA1 gene. This syndrome presents diagnostic challenges due to its rare nature and varied clinical manifestations. We report the clinical course of a 76-year-old man with therapy-resistant large vessel vasculitis and myelodysplastic syndrome (MDS), eventually confirmed as VEXAS syndrome. The patient responded well to corticosteroid therapy. However, over two years, he faced multiple hospital admissions due to inflammatory flare-ups during corticosteroid tapering. Several immunosuppressive therapies were attempted without success. Further research is essential to understand this complex syndrome's pathophysiology, genetics, clinical course, and treatment options, ultimately benefiting both patients and healthcare providers.

SARS-CoV-2-related Multisystem Inflammatory Syndrome in Adult complicated by myocarditis and cardiogenic shock.

Multisystem Inflammatory Syndrome in Adult (MIS-A) is a rare COVID-19 complication, presenting as fever with laboratory evidence of inflammation, severe illness requiring hospitalization and multisystem organ involvement. We report on a 25-year-old man presenting with fever, rash, abdominal pain, diarrhoea and vomiting following prior asymptomatic COVID-19 infection. He developed refractory shock and type 1 respiratory insufficiency requiring mechanical ventilation. Diagnostic testing revealed significant inflammation, anemia, thrombocytopenia, acute kidney injury, hepatosplenomegaly, colitis, lymphadenopathy and myocarditis necessitating inotropy. Ventilatory, vasopressor and inotropic support was weaned following pulse corticosteroids and intravenous immunoglobulins. Heart failure therapy was started. Short-term follow-up shows resolution of inflammation and cardiac dysfunction.

Diagnosing COVID-19; towards a feasible COVID-19 rule-out protocol.

INTRODUCTION: We present the results of the COVID-19 rule-out protocol at Ghent University Hospital, a step-wise testing approach which included repeat NFS SARS-CoV-2 rRT-PCR, respiratory multiplex RT-PCR, low-dose chest CT and bronchoscopy with BAL to confirm or rule-out SARS-CoV-2 infection in patients admitted with symptoms suggestive of COVID-19. RESULTS: Between 19 March 2020 and 30 April 2020, 455 non-critically ill patients with symptoms suspect for COVID-19 were admitted. The initial NFS for SARS-CoV-2 rRT-PCR yielded 66.9%, the second NFS 25.4% and bronchoscopy with BAL 5.9% of total COVID-19 diagnoses. In the BAL fluid, other respiratory pathogens were detected in 65% (13/20) of the COVID-19 negative patients and only in 1/7 COVID-19 positive patients. Retrospective antibody testing at the time around BAL sampling showed a positive IgA or IgG in 42.9 % of the COVID-19 positive and 10.5% of the COVID-19 negative group. Follow-up serology showed 100% COVID-19 positivity in the COVID-19 positive group and 100% IgG negativity in the COVID-19 negative group. CONCLUSION: In our experience, bronchoscopy with BAL can have an added value to rule-in or rule-out COVID-19 in patients with clinical and radiographical high-likelihood of COVID-19 and repeated negative NFS testing. Furthermore, culture and respiratory multiplex PCR on BAL fluid can aid to identify alternative microbial etiological agents in this group. Retrospective analysis of antibody development in this selected group of patients suggests that the implementation of serological assays in the routine testing protocol will decrease the need for invasive procedures like bronchoscopy.

Subarachnoidal-pleural fistula (SAPF) as an unusual cause of persistent pleural effusion. Beta-trace protein as a marker for SAPF. Case report and review of the literature.

BACKGROUND: We describe a case of a 56-year-old woman who developed a recurrent pleural effusion after a thoracoscopic resection of an anterior bulging thoracic disc hernia (level D9-D10). Despite several evacuating pleural punctions, dyspnea reoccurred due to recurrent pleural effusion, the same side as the disc resection. Because of increasing headache after each punction, a subarachnoidal pleural fistula (SAPF) was suspected. Although magnetic resonance imaging (MRI) showed features suggestive of SAPF, there was not enough evidence to justify a new thorascopy. METHODS: Cerebrospinal fluid (CSF) leakage into the thoracic and abdominal cavity has been described as a result of trauma or surgery. Detection of beta-trace protein (BTP, a brain-specific protein) has been described to detect CSF fistulae causing rhino- and otoliquorrhea. Similarly, BTP determination could be used to identify the presence of CSF at other anatomical sites such as the thoracic cavity. Therefore, we decided to determine the concentration of BTP in the pleural effusion of this patient. BTP was assayed using immunonephelometry. RESULTS: The patient's BTP pleural fluid concentration was 14·0 mg/l, which was a 25-fold increase compared with the BTP serum concentration. After insertion of a subarachnoidal lumbal catheter, a video-assisted thorascopy was performed. Leakage of liquor through the parietal pleura into the thoracic cavity was observed. The SAPF was closed using a durasis patch and DuraSeal®. Postoperatively, there was no reoccurrence of pleural fluid. CONCLUSIONS: SAPF has to be included to the differential diagnosis of patients with persistent pleural effusion after spinal surgery. This case illustrates the importance of BTP in diagnosing SAPF, especially in cases where major therapeutic consequences may need to be drawn.

Endobronchial ultrasound-guided transbronchial needle biopsy for M1 staging of extrathoracic malignancies.

BACKGROUND: extrathoracic malignancies metastasize to the mediastinum and/or pulmonary hilum. Mediastinoscopy and thoracoscopy are standard to obtain tissue proof of metastatic spread but are invasive. Endobronchial ultrasound with real-time-guided transbronchial fine-needle aspiration (EBUS-TBNA) is a minimally invasive alternative for surgical staging of lung cancer. METHODS: we analysed the test characteristics of EBUS-TBNA in consecutive patients with a suspicion of mediastinal or hilar metastases of various extrathoracic malignancies. RESULTS: ninety-two patients with concurrent (n = 33) or previously diagnosed and treated (n = 59) extrathoracic malignancies were evaluated. EBUS-TBNA detected mediastinal or hilar metastatic spread in 52 patients (57%) [metastasis of extrathoracic tumour in 40 (44%) and second malignancies (lung cancer) in 12 (13%)]. Subsequent surgical staging showed malignancy in another nine patients. With EBUS-TBNA, an alternate diagnosis was found in four. Sensitivity and negative predictive value for mediastinal or hilar metastatic spread were 85% [95% confidence interval (CI) 73-93] and 76% (95% CI 59-88). EBUS-TBNA prevented an invasive surgical procedure in 61% of the patients. One patient had a respiratory arrest during EBUS-TBNA; abortion lead to full recovery without further intervention. CONCLUSIONS: EBUS-TBNA is a minimally invasive method for M staging of patients with extrathoracic malignancies to confirm mediastinal or hilar spread. EBUS-TBNA therefore may qualify as an alternative for surgical staging.

Molecular structure of carrageenans and kappa oligomers: a Raman spectroscopic study.

The Raman spectra of kappa and iota carrageenan, a desulphated furcellaran and a series of oligomers have been compared in the region 700-1500 cm-1. Spectral differences depending on the amount and the location of the sulphate group on the ring, the chain length, the nature of the counterion and the conformation are discussed. Indications that the ionic interactions in the Na+ salts of the oligomers are different from those in K+ and Rb+ salts are given. On the macromolecular level it is found that the vibrational movements of the skeleton are related to the chain flexibility and the conformation. In gels of K+ and Rb+ kappa carrageenan spectral evidence is given for the existence of structural order.