N-acetyl-cysteine reduces the risk for mechanical ventilation and mortality in patients with COVID-19 pneumonia: a two-center retrospective cohort study.

Background: N-acetyl-cysteine (NAC) has been previously shown to exert beneficial effects in diverse respiratory diseases, through antioxidant and anti-inflammatory actions. Our aim was to evaluate NAC potential impact in hospitalised patients with COVID-19 pneumonia, in terms of progression to severe respiratory failure (SRF) and mortality.

Patients And Methods: This retrospective, two-centre cohort study included consecutive patients hospitalised with moderate or severe COVID-19 pneumonia.

Pneumococcal Otogenic Meningitis Complicated With Pneumocephalus and Coma State.

We herein describe the unusual case of a male patient with pneumococcal otogenic meningitis, which was complicated with non-traumatic pneumocephalus and coma, in the absence of head trauma or a neurosurgical procedure. The initiation of an aggressive, empirical scheme with wide-spectrum antibiotics was achieved to stop the progression of meningitis, pneumocephalus, and their underlying causes in this patient. We propose pathogenetic mechanisms to explain this life-threatening condition.

Fatal, paraparetic acute motor axonal neuropathy, early complicating chemotherapy with nab-paclitaxel.

So far, very few cases describing an interrelation between chemotherapy and Guillain-Barré syndrome have been published. We describe the first case of a paraparetic, pure acute motor axonal neuropathy variant of Guillain-Barré syndrome, early complicating protein-bound paclitaxel (nab-paclitaxel/abraxane) chemotherapy (first and sole session at a 350 mg dose) in a female patient with metastatic breast cancer. Although our patient was treated with the standard regimen of intravenous immunoglobulin for 5 days, she showed no evidence of motor improvement and died 1 month after the onset of the neurological deficit.

A novel signalling screen demonstrates that CALR mutations activate essential MAPK signalling and facilitate megakaryocyte differentiation.

Most myeloproliferative neoplasm (MPN) patients lacking JAK2 mutations harbour somatic CALR mutations that are thought to activate cytokine signalling although the mechanism is unclear. To identify kinases important for survival of CALR-mutant cells, we developed a novel strategy (KISMET) that utilizes the full range of kinase selectivity data available from each inhibitor and thus takes advantage of off-target noise that limits conventional small-interfering RNA or inhibitor screens. KISMET successfully identified known essential kinases in haematopoietic and non-haematopoietic cell lines and identified the mitogen activated protein kinase (MAPK) pathway as required for growth of the CALR-mutated MARIMO cells.

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare cause of sporadic intellectual disability (ID). We report three new cases of FOXP1-related disorder identified through clinical whole-exome sequencing. Detailed phenotypic assessment confirmed that global developmental delay, autistic features, speech/language deficits, hypotonia and mild dysmorphic features are core features of the disorder.