TBD

Collagen VI (COLVI) is a critical myomatrix protein for skeletal muscle health and maintenance. There are 6 COL6 genes (COL6A1-COL6A6). Pathogenic variants in COL6A1, COL6A2, or COL6A3 cause COLVI-related dystrophies (COL6-RDs) with early-onset muscle weakness and loss of ambulation. Identifying novel therapeutic targets is critical for developing COL6-RDs therapies.

Congenital disorders of glycosylation (CDG) are a group of clinically and genetically heterogeneous diseases caused by disorders of glycoproteins synthesis. Patients manifest a wide range of symptoms, phenotypes, and severity, usually with neurological compromise. The conserved oligomeric Golgi (COG) complex plays an important role in vesicular tethering in retrograde Golgi transport. Mutation in this complex is considered a multiple-pathway CDG. Only 6 cases of pathogenic variants of COG1 have been reported in the literature.

The diagnostic framework and the therapeutic management of patients with adult dystonia can represent a challenge for clinical neurologists. The objective of the present paper is to delineate diagnostic and therapeutic recommendations for dystonia provided by a panel of Italian experts afferent to the Italian Society of Neurology, the Italian Academy for the Study of Parkinson's Disease and Movement Disorders, and the Italian Network on Botulinum Toxin. We first discuss the clinical approach and the instrumental assessment useful for diagnostic purpose.

Background: Mucociliary clearance is heavily affected by mucus concentration, with its attendant biophysical properties. Mucus concentration is tightly regulated by luminal mucin secretion and mucus hydration. Although small (distal) airways (

Background: Orai1 is a plasma membrane Ca2+ channel that is involved in store-operated calcium entry (SOCE). In pulmonary cells, SOCE regulates gene expression and stimulates cytokine, mucin, and protease secretion. Activation of Orai1/SOCE results in recruitment of neutrophils to the lungs. Orai1 activation is also upstream of transcription factors such as nuclear factor of activated T cells, which facilitate onset of inflammation. In cystic fibrosis (CF), the immune response is dysregulated, and the lung is chronically inflamed, but Orai1 expression in the CF lung is poorly understood.

Background: Air-liquid interface (ALI) and organoid culture are key techniques for differentiating human airway epithelial cells (HAECs). The efficiency and robustness of these assays often depends on the quality of primary-isolated cells, but primary cell isolation workflows, with which the user controls the choice of isolation method, cell culture medium, and culture format, may reduce reproducibility.

Background: Mucociliary clearance (MCC) is a vital innate defense mechanism that is impaired in people with cystic fibrosis (CF) and animal CF models. Dysfunctional MCC contributes to airway inflammation and infection, which hasten lung function decline. Most people with CF benefit from highly effective CF transmembrane conductance regulator (CFTR) modulators, but some mutations are unresponsive to currently available modulators, and even people with CF who benefit from modulator therapy may be unable to clear chronic pulmonary infections.

Infection by SARS-CoV-2 may be associated with testicular dysfunction that could affect male fertility.Testicles of fatal COVID-19 cases were investigated to detect virus in tissue and to evaluate histopathological and transcriptomic changes.Three groups were compared: a. uninfected controls (subjects dying of trauma or sudden cardiac death; n = 10); b. subjects dying of COVID-19 (virus-negative in testes; n = 15); c. subjects dying of COVID-19 (virus-positive in testes; n = 9).

Nuclear depletion and cytoplasmic mislocalisation of the RNA-binding protein heterogeneous ribonucleoprotein K (hnRNP K) within pyramidal neurons of the frontal cortex have been shown to be a common neuropathological feature in frontotemporal lobar degeneration (FTLD) and elderly control brain. Here, we describe a second neuronal subtype vulnerable to mislocalisation within the dentate nucleus of the cerebellum.

The most abundant circulating CD3- population in patients with cHL was a newly identified monocyte subset with increased expression of multiple immunosuppressive and tumorigenic cytokines and chemokines, PD-L1 and SIRPa. This newly identified monocytic population was virtually absent from the blood of healthy donors. RNAscope analysis of the intact tumor microenvironment localized these tumor-infiltrating monocytes/macrophages to the immediate proximity of HRS cells.