Patisiran in ATTRv amyloidosis with polyneuropathy: "PatisiranItaly" multicenter observational study.

Background: Hereditary amyloid transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, inherited, multisystemic, progressive adult-onset disease, affecting sensorimotor nerves, and various organs. It is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate, forming amyloid fibrils. Patisiran is a small, double-stranded interfering RNA encapsulated in a lipid nanoparticle, designed to enter hepatocytes and selectively target TTR mRNA to reduce both variant TTR and wild-type TTR (wt).

Post-infective neuromuscular hyperexcitability syndrome in a young man with cystic fibrosis: A case report.

Cystic fibrosis (CF)-related central (CNS) and peripheral nervous system (PNS) disorders have not yet been fully described. We report the first case of post-infective neuromuscular hyperexcitability syndrome in a 23-year-old male patient with CF and pulmonary exacerbation. CNS radiological investigations were unremarkable and no autoantibodies were detected.

Acute and chronic effects of inspiratory muscle training in patients with type 2 diabetes mellitus: a systematic review of randomized controlled trials.

Objectives: To conduct a systematic review to determine the acute and chronic effects of inspiratory muscle training (IMT) in type 2 diabetes mellitus (T2DM) patients on cardiac autonomic function, glucose variability, inspiratory muscle strength and endurance, hemodynamic variables, and exercise capacity.

Methods: A search was carried out according to a specific search strategy, following the PRISMA statement, and three independent reviewers have undertaken the article selection process. Searches were carried out in June 2023, on the following electronic databases: EMBASE, MEDLINE (PubMed), SCOPUS (Elsevier), and Web of Science.

Effectiveness and safety of intravenous immunoglobulin for peripheral neuropathy in EGPA patients: a retrospective study.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a chronic inflammatory disease belonging to the spectrum of small-vessel vasculitis associated with the presence of anti-neutrophil cytoplasmic antibodies (ANCAs), also characterized by eosinophilic infiltration of target organs. Peripheral neuropathy (PN) affects about 2/3 of the patients as a presenting symptom and typically represents a vasculitic involvement. A few studies have addressed the role of intravenous immunoglobulin (IVIg) for the treatment of PN in EGPA.

Challenges in Diagnosis of COVID-19 Pneumonia under Ocrelizumab and De-Risking Strategies in Multiple Sclerosis-The Elephant Is (Still) in the Room.

Severe SARS-CoV-2 infections may still be observed in people bearing risk factors, such as the use of anti-CD20 monoclonal antibodies (mAbs), which are adopted in several autoimmune disorders including multiple sclerosis (MS). COVID-19 diagnosis is routinely based on nasopharyngeal swab testing, but suboptimal sensitivity for SARS-CoV-2 detection compared to bronchoalveolar lavage (BAL) may lead to misdiagnosis in some cases. Such diagnostic issues were described in a few MS patients receiving anti-CD20 mAbs, including middle-aged people and lacking information on subsequent MS therapeutic management, a debated topic as no evidence-based guidance on de-risking strategies is currently available.