Acta Neuropathol Commun
January 2025
Rippling Muscle Disease (RMD) is a rare skeletal myopathy characterized by abnormal muscular excitability manifesting with wave-like muscle contractions and percussion-induced muscle mounding. Hereditary RMD is associated with caveolin-3 or cavin-1 mutations. Recently, we identified cavin 4 autoantibodies as a biomarker of immune-mediated RMD (iRMD), though the underlying disease-mechanisms remain poorly understood.
View Article and Find Full Text PDFImportance: Evidence suggests that prophylactic abdominal drainage after gastrectomy for cancer may reduce postoperative morbidity and hospital stay but this evidence comes from small studies with a high risk of bias. Further research is needed to determine whether drains safely meet their primary purpose of identifying and managing postoperative intraperitoneal collections without the need for reoperation or additional percutaneous drainage.
Objective: To determine whether avoiding routine abdominal drainage increased postoperative invasive procedures.
: The textbook outcome (TO) is a composite tool introduced to uniform surgical units and regulate surgical quality and outcomes. A patient is considered TO only if all predetermined items are met. In colorectal surgery, TO represents a new tool that can achieve important results given the prevalence of colorectal cancers.
View Article and Find Full Text PDFExosomes mediate cell-to-cell crosstalk involving a variety of biomolecules through an intricate signaling network. In recent years, the pivotal role of exosomes and their non-coding RNAs cargo in the development and progression of several cancer types clearly emerged. In particular, tumor bulk and its microenvironment co-evolve through cellular communications where these nanosized extracellular vesicles are among the most relevant actors.
View Article and Find Full Text PDFIntroduction: Spinal muscular atrophy (SMA) is caused by homozygous loss of the gene with gene copy number correlating with disease severity. Rarely SMA is caused by a deletion on one allele and a pathogenic variant on the other. The pathogenic missense variant c.
View Article and Find Full Text PDFCardiac masses include a wide range of lesions whose nature could be both neoplastic (primary and secondary) or not. Here we report the case of a 53-year-old woman referred to our center for pancreatic lesion follow up by magnetic resonance. The collateral finding of a rounded-shaped lesion in the right heart atrium, during the abdomen examination, led to further diagnostic investigation.
View Article and Find Full Text PDFBackground: As the population ages, more older adults are presenting for surgery. Age-related declines in physiological reserve and functional capacity can result in frailty and poor outcomes after surgery. Hence, optimizing perioperative care in older patients is imperative.
View Article and Find Full Text PDFBackground And Objectives: Prolonged compound muscle action potential (CMAP) duration and preferential loss of myosin are considered the diagnostic hallmarks of critical illness myopathy (CIM); however, their correlation and prognostic values have not been studied. We aimed to investigate the correlation between CMAP duration and myosin loss and their effect on mortality by comparing between patients with CIM with and without myosin loss.
Methods: We searched the Mayo Clinic Electromyography Laboratory databases (1986-2021) for patients diagnosed with CIM on the basis of prolonged distal CMAP durations (>15 msec in fibular motor nerve studies recording over the tibialis anterior or >8 msec in other motor nerves) and needle EMG findings compatible with myopathy.
Purpose: Prior studies reported evidence of autonomic involvement in motor neuron disease and suggested more severe dysfunction in upper motor neuron predominant syndromes. Hence, we sought to characterize autonomic impairment in primary lateral sclerosis.
Methods: Neurological evaluations, thermoregulatory sweat tests, and autonomic reflex screens were analyzed retrospectively in 34 primary lateral sclerosis patients (28 definite and 6 probable).
Introduction/aims: Rhabdomyolysis is an etiologically heterogeneous, acute necrosis of myofibers characterized by transient marked creatine kinase (CK) elevation associated with myalgia, muscle edema, and/or weakness. The study aimed to determine the role of electrodiagnostic (EDX) testing relative to genetic testing and muscle biopsy in patients with unprovoked rhabdomyolysis in identifying an underlying myopathy.
Methods: EDX database was reviewed to identify unprovoked rhabdomyolysis patients who underwent EDX testing between January 2012 and January 2022.
Background: The aim of the present study is to compare outcomes of the robotic hand-sewn, linear- and circular-stapled techniques performed to create an intrathoracic esophagogastric anastomosis in patients who underwent Ivor-Lewis esophagectomy.
Methods: Patients who underwent a planned Ivor-Lewis esophagectomy were retrospectively analysed from prospectively maintained databases. Only patients who underwent a robotic thoracic approach with the creation of an intrathoracic esophagogastric anastomosis were included in the study.
Background: The aim of this study was to investigate 8-mm robotic trocar site hernia (TSH) rate over the short and long term, providing aids to manage the related fascial wounds.
Methods: A retrospective analysis of 320 patients undergoing robotic surgery was conducted. The primary outcome was 8-mm TSH rate with a minimum follow-up of 12 months.
Aim: To provide reference values of the dimensions of the left and right atrium (RA) obtained using the biplane and monoplane methods, respectively, on two- and four-chamber views, which represent the standard projections acquired in clinical practice, and correlation with body surface area (BSA), age, and gender.
Materials And Methods: Healthy volunteers, M:F = 1:1, including five participants per gender and age decile from 20 to 70 years, who underwent cardiovascular magnetic resonance imaging (CMR) were enrolled prospectively. Normal atrial reference values were calculated for male and female subpopulations and stratified by age.
A novel octaurea-calix[4]tube (UC4T) has been synthesized in three steps from the original Beer's -butylcalix[4]tube ionophore. In a polar solvent (DMSO-), UC4T rapidly interconverts between two identical conformations with symmetry for the two calix[4]arene subunits. However, in a less polar solvent mixture (CDCl/DMSO-, 98 : 2), UC4T adopts a highly distorted asymmetric structure, which hinders the formation of typical tetraurea calix[4]arene capsular assemblies.
View Article and Find Full Text PDFDeferiprone, generally, is considered an important chelating agent for Fe overload. From a literature data analysis, a lack of information on the interaction of this molecule toward a series of metal cations emerged, inducing to fill out the topic. The complexing ability of deferiprone toward Ca, Mg, Cd and Pb was studied by potentiometry and H NMR spectroscopy, in KCl aqueous solutions at different ionic strength values (0.
View Article and Find Full Text PDF