Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.

Introduction/objective: Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition by conducting an in-depth neurophysiological examination of afflicted patients.

Methods: A retrospective analysis was conducted in 31 RFC1-positive patients.

Influence of the isolation method on characteristics and functional activity of mesenchymal stromal cell-derived extracellular vesicles.

Background Aims: Extracellular vesicle (EV) isolation methods are based on different physicochemical properties and may result in the purification of distinct EV populations. We compared two different isolation methods suitable for producing clinical-grade mesenchymal stromal cell-derived EVs (MSC-EVs)-ion exchange chromatography (IEX) and ultrafiltration (UF)-and evaluated their impact on the composition and functional properties of EVs.

Methods: EVs were purified from conditioned culture medium using an anion exchange resin (IEX) or Amicon filters with a 100-kDa cutoff (UF) (MilliporeSigma, Burlington, MA, USA).

The Role of Neurophysiology in Managing Patients with Chiari Malformations.

Chiari malformation type 1 (CM1) includes various congenital anomalies that share ectopia of the cerebellar tonsils lower than the foramen magnum, in some cases associated with syringomyelia or hydrocephalus. CM1 can cause dysfunction of the brainstem, spinal cord, and cranial nerves. This functional alteration of the nervous system can be detected by various modalities of neurophysiological tests, such as brainstem auditory evoked potentials, somatosensory evoked potentials, motor evoked potentials, electromyography and nerve conduction studies of the cranial nerves and spinal roots, as well as brainstem reflexes.

Ion exchange chromatography as a simple and scalable method to isolate biologically active small extracellular vesicles from conditioned media.

In the last few years, extracellular vesicles (EVs) have become of great interest due to their potential as biomarkers, drug delivery systems, and, in particular, therapeutic agents. However, there is no consensus on which is the best way to isolate these EVs. The choice of the isolation method depends on the starting material (i.

Intraoperative Neurophysiological Monitoring in Syringomyelia Surgery: A Multimodal Approach.

Syringomyelia can be associated with multiple etiologies. The treatment of the underlying causes is first-line therapy; however, a direct approach to the syrinx is accepted as rescue treatment. Any direct intervention on the syrinx requires a myelotomy, posing a significant risk of iatrogenic spinal cord (SC) injury.

RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.

Introduction: Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Sensory neuronopathy/neuropathy appears to be a major symptom of RFC1-disorder, and RFC1 expansions are common in patients with sensory chronic idiopathic axonal neuropathy or sensory ganglionopathy. We aimed to investigate RFC1 expansions in patients with suspected RFC1-related disease followed-up in a Neuromuscular Diseases Unit, with a particular interest in the involvement of the peripheral nervous system.

Macrophage bioassay standardization to assess the anti-inflammatory activity of mesenchymal stromal cell-derived small extracellular vesicles.

Background Aims: Owing to the lack of biological assays, determining the biological activity of extracellular vesicles has proven difficult. Here the authors standardized an in vitro assay to assess the anti-inflammatory activity of mesenchymal stromal cell-derived small extracellular vesicles (MSC-sEVs) based on their ability to prevent acquisition of the M1 phenotype in lipopolysaccharide (LPS)-stimulated RAW 264.7 macrophages.

Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

We report the largest and most diverse genetic study of type 1 diabetes (T1D) to date (61,427 participants), yielding 78 genome-wide-significant (P < 5 × 10) regions, including 36 that are new. We define credible sets of T1D-associated variants and show that they are enriched in immune-cell accessible chromatin, particularly CD4 effector T cells. Using chromatin-accessibility profiling of CD4 T cells from 115 individuals, we map chromatin-accessibility quantitative trait loci and identify five regions where T1D risk variants co-localize with chromatin-accessibility quantitative trait loci.

Effects of non-thermal plasma technology on Diaporthe longicolla cultures and mechanisms involved.

Background: The Diaporthe/Phomopsis complex (D/P) is a group of soybean seed-borne fungi. The use of chemical fungicides, either for seed treatment or during the crop cycle, is the most adopted practice for treating fungal diseases caused by this complex. Worldwide, there is a search for alternative seed treatments that are less harmful to the environment than chemicals.

Inflammatory lobular hemangioma: A vascular proliferation with a prominent lymphoid component. Review of a series of 19 cases.

In the last 30 years, there has been a strong interest in vascular proliferations. Pyogenic granuloma was not only renamed lobular capillary hemangioma, but also the conceptual interpretation was also changed from an overgrowth of granulation tissue to a genuine hemangioma (or benign vascular neoplasm). We describe 19 cases of patients who presented clinically with a vascular lesion, characteristically a pyogenic granuloma or lobular hemangioma, where the histopathological findings led to the pathologic concern for a lymphoma of the skin.

Hair Cortisol Concentrations as a Biomarker to Predict a Clinical Pregnancy Outcome after an IVF Cycle: A Pilot Feasibility Study.

Our objective was to examine the feasibility of hair cortisol concentrations (HCC) as a biomarker to predict clinical pregnancy outcomes and investigate its potential associations with perceived anxiety, resilience, and depressive symptoms. A total of 43 participants were assessed using HCC, the state trait anxiety inventory (STAI), resilience scale (RS), and the depression subscale of the symptom checklist 90-R (SCL-90-R). Participants were approached at their second consultation with the reproductive endocrinologist (T1), before scheduling their IVF cycle, and then 12 weeks after (T2), at their post-transfer visit with the study coordinators, before the human chorionic gonadotropin (HCG) pregnancy test.

Impact of underlying stress in infertility.

Purpose Of Review: To review the latest findings about the impact of women's physiological stress on fertility treatment outcomes and the main biomarkers used.

Recent Findings: Women with infertility report high levels of distress that can impact their treatment outcome. The combination of multiple methodologies in psychological stress evaluation result in higher validity, precision and richness in the data.

Enhancement of soybean nodulation by seed treatment with non-thermal plasmas.

Soybean (Glycine max (L.) Merrill) is one of the most important crops worldwide providing dietary protein and vegetable oil. Most of the nitrogen required by the crop is supplied through biological N fixation.

Mesenchymal Stem Cell Therapy Facilitates Donor Lung Preservation by Reducing Oxidative Damage during Ischemia.

Lung transplantation is a lifesaving therapy for people living with severe, life-threatening lung disease. The high mortality rate among patients awaiting transplantation is mainly due to the low percentage of lungs that are deemed acceptable for implantation. Thus, the current shortage of lung donors may be significantly reduced by implementing different therapeutic strategies which facilitate both organ preservation and recovery.

OCT4 Silencing Triggers Its Epigenetic Repression and Impairs the Osteogenic and Adipogenic Differentiation of Mesenchymal Stromal Cells.

Mechanisms mediating mesenchymal stromal/stem cells' (MSCs) multipotency are unclear. Although the expression of the pluripotency factor OCT4 has been detected in MSCs, whether it has a functional role in adult stem cells is still controversial. We hypothesized that a physiological expression level of OCT4 is important to regulate MSCs' multipotency and trigger differentiation in response to environmental signals.

Multidrug resistant Gram-negative infections in neonatology.

Introduction: Multidrug resistant Gramnegative (MDRGN) infections are an increasing problem in neonatal intensive care units. The objective of this study was to establish the epidemiological, clinical, microbiological, and evolutionary characteristics of carbapenem-resistant MDRGN infections and the risk factors for them at the Division of Neonatology of a tertiary care hospital.

Population And Method: A retrospective cohort study was done in this Division in patients with a documented MDRGN infection between 4/24/2013 and 4/29/2015.

OCT4 expression mediates partial cardiomyocyte reprogramming of mesenchymal stromal cells.

Mesenchymal stem/stromal cells (MSCs) are in numerous cell therapy clinical trials, including for injured myocardium. Acquisition of cardiomyocyte characteristics by MSCs may improve cardiac regeneration but the mechanisms regulating this process are unclear. Here, we investigated whether the pluripotency transcription factor OCT4 is involved in the activation of cardiac lineage genetic programs in MSCs.

Heme oxygenase up-regulation under ultraviolet-B radiation is not epigenetically restricted and involves specific stress-related transcriptions factors.

Heme oxygenase-1 (HO-1) plays a protective role against oxidative stress in plants. The mechanisms regulating its expression, however, remain unclear. Here we studied the methylation state of a GC rich HO-1 promoter region and the expression of several stress-related transcription factors (TFs) in soybean plants subjected to ultraviolet-B (UV-B) radiation.

Non-lymphoid lesions that may mimic cutaneous hematopoietic neoplasms histologically.

This review considers neoplastic lesions that originate in the skin, and which have the potential to imitate hematopoietic proliferations at a histological level. They include lymphoepithelioma-like carcinoma, Merkel cell carcinoma, benign lymphadenoma, pseudolymphomatous angiosarcoma, lymphadenoid dermatofibroma, lymphomatoid atypical fibroxanthoma, histiocytoid (epithelioid) hemangioma, and inflamed melanocytic lesions. The clinical and pathological features of those tumors are considered.

Nitric oxide induces specific isoforms of antioxidant enzymes in soybean leaves subjected to enhanced ultraviolet-B radiation.

Antioxidant enzymes play a key role in plant tolerance to different types of stress, including ultraviolet-B (UV-B) radiation. Here we report that nitric oxide (NO) enhances antioxidant enzymes gene expression and increases the activity of specific isoforms protecting against UV-B radiation. Pre-treatments with sodium nitroprussiate (SNP), a NO-donor, prevented lipid peroxidation, ion leakage and H2O2 and superoxide anion accumulation in leaves of UV-B-treated soybean plants.

Gadolinium-associated plaques: a new, distinctive clinical entity.

Importance: A new condition, gadolinium-associated plaques (GAP), is reported in 2 patients. It is related to a particular type of gadolinium (gadodiamide) used for contrast-enhanced radiologic studies.

Observations: Erythematous plaques, 0.

Indole acetic acid is responsible for protection against oxidative stress caused by drought in soybean plants: the role of heme oxygenase induction.

Objectives This study was focused on the role of indole acetic acid (IAA) in the defense against oxidative stress damage caused by drought in soybean plants and to elucidate whether heme oxygenase-1 (HO-1) and nitric oxide (NO) are involved in this mechanism. IAA is an auxin that participates in many plant processes including oxidative stress defense, but to the best of our knowledge no information is yet available about its possible action in drought stress. Methods To this end, soybean plants were treated with 8% polyethylene glycol (PEG) or 100 µM IAA.

Tempol-nebivolol therapy potentiates hypotensive effect increasing NO bioavailability and signaling pathway.

Nebivolol is a third generation beta blocker with endothelial nitric oxide synthase (eNOS) agonist properties. Considering the role of reactive oxygen species (ROS) in the uncoupling of eNOS, we hypothesized that the preadministration of an antioxidant as tempol, could improve the hypotensive response of nebivolol in normotensive animals increasing the nitric oxide (NO) bioavailability by a reduction of superoxide (O2(•-)) basal level production in the vascular tissue. Male Sprague Dawley rats were given tap water to drink (control group) or tempol (an antioxidant scavenger of superoxide) for 1 week.

Atypical fibroxanthoma: a selective review.

The head and neck area has disproportionate number of cutaneous tumors given the surface area, as compared with the rest of the body. Many of the tumors are related to chronic actinic damage and the most common by far are squamous and basal cell carcinomas. Atypical fibroxanthoma refers to a group of usually indolent cutaneous tumors that occur in older adults and are characterized histologically by a population of fusiform, epithelioid, and pleomorphic cells, numerous cells in mitosis, and intracytoplasmic lipidization in some cells.