Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.

GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP--acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase)/-acetylmannosamine kinase (ManNAc kinase) gene (), clinically resulting in the loss of ambulation within 10-20 years from the onset of the initial symptoms. The disease's mechanism is poorly understood and non-invasive biomarkers are lacking, hindering effective therapy development.

Very early migration of a calcar-guided short stem: a randomized study of early mobilization and the influence of a calcium phosphate coating with 60 patients.

This study analyzed the migration of a calcar-guided short stem to determine the course of very early migration, as well as evaluated the effect of an additional calcium phosphate (CP) coating on a titanium plasma spray (TPS) coating, which has not been analyzed previously. Sixty patients were enrolled in this study and were treated with the A2 calcar-guided short stem. The implant coating was randomized with either the TPS or an additional CP coating, and radiostereometric analysis was performed with the baseline measurement before initial weight-bearing, along with follow-up examinations at 1 week, 6 weeks, 3 months, and 6 months.

Tuberosity refixation improves functional outcome following primary reverse shoulder arthroplasty in proximal humeral fracture.

Introduction: The purpose of this prospective study was to examine clinical results of tuberosity refixation in RSA for the treatment of displaced PHF in elderly patients. We hypothesized that tuberosity refixation would increase clinical outcome.

Methods: In this prospective study, 50 patients were included after receive a primary RSA for complex proximal humeral fracture between March 2013 and December 2015 for follow-up after three, 12 and 24 months.

Cloxyquin activates hTRESK by allosteric modulation of the selectivity filter.

The TWIK-related spinal cord K channel (TRESK, K18.1) is a K channel contributing to the maintenance of membrane potentials in various cells. Recently, physiological TRESK function was identified as a key player in T-cell differentiation rendering the channel a new pharmacological target for treatment of autoimmune diseases.

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

Background: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases.

Methods: We ascertained five individuals with monoallelic pathogenic variants in MORC2, previously associated with three dominantly inherited phenotypes: an axonal form of Charcot-Marie-Tooth disease type 2Z; a syndrome of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy; and a rare form of spinal muscular atrophy.