Medicina (B Aires)
August 2024
In this report, we present the case of a woman with clinical characteristics of hypercalcemia due to ectopic production of 1,25(OH)2D. She reported a history of aesthetic surgery with gluteal fillers. The formation of granulomas after these interventions were previously described.
View Article and Find Full Text PDFFibromyalgia (FM) and climacteric conditions share common epidemiological and clinical features, with FM symptoms often beginning during menopause. Musculoskeletal pain, arthralgia, myalgia and other symptoms are frequently seen in both conditions. Some research suggests a link between the cessation of sex hormones and FM symptoms.
View Article and Find Full Text PDFVitamin D is important for musculoskeletal health. Concentrations of 25-hydroxyvitamin D, the most commonly measured metabolite, vary markedly around the world and are influenced by many factors including sun exposure, skin pigmentation, covering, season and supplement use. Whilst overt vitamin D deficiency with biochemical consequences presents an increased risk of severe sequelae such as rickets, osteomalacia or cardiomyopathy and usually warrants prompt replacement treatment, the role of vitamin D supplementation in the population presents a different set of considerations.
View Article and Find Full Text PDFThe simultaneous observation of three-dimensional (3D) chromatin structure and transcription in single cells is critical to understand how DNA is organized inside cells and how this organization influences or is affected by other processes, such as transcription. We have recently introduced an innovative technology known as Hi-M, which enables the sequential tagging, 3D visualization, and precise localization of multiple genomic DNA regions alongside RNA expression within individual cells. In this chapter, we present a comprehensive guide outlining the creation of probes, as well as sample preparation and labeling.
View Article and Find Full Text PDFGenome-wide ensemble sequencing methods improved our understanding of chromatin organization in eukaryotes but lack the ability to capture single-cell heterogeneity and spatial organization. To overcome these limitations, new imaging-based methods have emerged, giving rise to the field of spatial genomics. Here, we present pyHiM, a user-friendly python toolbox specifically designed for the analysis of multiplexed DNA-FISH data and the reconstruction of chromatin traces in individual cells.
View Article and Find Full Text PDFReumatol Clin (Engl Ed)
February 2024
Objectives: To explore the patient journey of people with fibromyalgia (FM) in Latin American countries in order to identify problems in health care and other areas that may be resolvable.
Methods: Qualitative study with phenomenological and content analysis approach through focus groups and patient journey (Ux; User Experience) methodology. Nine virtual focus groups were conducted with FM patients and healthcare professionals in Argentina, Mexico and Colombia recruited from key informants and social networks.
In mammals, insulators contribute to the regulation of loop extrusion to organize chromatin into topologically associating domains. In Drosophila the role of insulators in 3D genome organization is, however, under current debate. Here, we addressed this question by combining bioinformatics analysis and multiplexed chromatin imaging.
View Article and Find Full Text PDFUnlabelled: Osteoporosis management has become more relevant as the life expectancy increases. In Ecuador, approximately 19% of adults over 65 years of age have been diagnosed with osteoporosis. There is no national consensus for the management and prevention of the disease being this proposal the first Ecuadorian consensus.
View Article and Find Full Text PDFReumatol Clin (Engl Ed)
April 2023
The first experiences with a group of drugs called immune checkpoint inhibitors for the treatment of cancer were described in 2010. They are currently used in many tumours, with successful survival outcomes but a new profile of adverse events. This new spectrum of immune-mediated toxicities includes an exaggerated inflammatory response of T lymphocyte and the development of autoimmune diseases or similar pathologies.
View Article and Find Full Text PDFAging Clin Exp Res
November 2022
Guidelines and recommendations developed and endorsed by the International Osteoporosis Foundation (IOF) are intended to provide guidance for particular pattern of practice for physicians who usually prescribe glucocorticoid (GC) therapy, and not to dictate the care of a particular patient. Adherence to the recommendations within this guideline is voluntary and the ultimate determination regarding their application should be made by the physician in light of each patient's circumstances. Guidelines and recommendations are intended to promote a desirable outcome but cannot guarantee any specific outcome.
View Article and Find Full Text PDFThe spatial organization of chromatin at the scale of topologically associating domains (TADs) and below displays large cell-to-cell variations. Up until now, how this heterogeneity in chromatin conformation is shaped by chromatin condensation, TAD insulation, and transcription has remained mostly elusive. Here, we used Hi-M, a multiplexed DNA-FISH imaging technique providing developmental timing and transcriptional status, to show that the emergence of TADs at the ensemble level partially segregates the conformational space explored by single nuclei during the early development of Drosophila embryos.
View Article and Find Full Text PDFObjectives: To evaluate the long-term safety and efficacy of filgotinib (FIL) for Japanese patients with rheumatoid arthritis (RA) and limited/no prior methotrexate (MTX) exposure. We present a Japanese population subanalysis of a global randomised-controlled trial at Week 52 and interim long-term extension (LTE) to Week 48 through June 2020.
Methods: Patients were randomised to FIL 200 mg plus MTX, FIL 100 mg plus MTX, FIL 200 mg, or MTX for 52 weeks.
Multiplexed sequential and combinatorial imaging enables the simultaneous detection of multiple biological molecules, proteins, DNA, or RNA, enabling single-cell spatial multi-omics measurements at sub-cellular resolution. Recently, we designed a multiplexed imaging approach (Hi-M) to study the spatial organization of chromatin in single cells. In order to enable Hi-M sequential imaging on custom microscope setups, we developed Qudi-HiM, a modular software package written in Python 3.
View Article and Find Full Text PDFIn a randomized clinical trial in patients initiating glucocorticoid therapy (GC-I) or on long-term therapy (GC-C), denosumab every 6 months increased spine and hip bone mineral density at 12 and 24 months significantly more than daily risedronate. The aim of this study was to evaluate the effects of denosumab compared with risedronate on bone strength and microarchitecture measured by high-resolution peripheral quantitative computed tomography (HR-pQCT) in GC-I and GC-C. A subset of 110 patients had high-resolution peripheral quantitative computed tomography (HR-pQCT) scans of the distal radius and tibia at baseline and at 12 and 24 months.
View Article and Find Full Text PDFObjectives: To evaluate the efficacy and safety of filgotinib for Japanese patients with rheumatoid arthritis (RA) and limited or no prior methotrexate (MTX) exposure.
Methods: Data up to 24 weeks were analysed for 71 Japanese patients from a 52-week global Phase 3 study. Patients with RA and limited or no prior MTX exposure were randomised in a 2:1:1:2 ratio to filgotinib 200 mg plus MTX, filgotinib 100 mg plus MTX, filgotinib 200 mg, or MTX.
Vascular Calcification (VC), low bone mass and fragility fractures are frequently observed in ageing subjects. Although this clinical observation could be the mere coincidence of frequent age-dependent disorders, clinical and experimental data suggest that VC and bone loss could share pathophysiological mechanisms. Indeed, VC is an active process of calcium and phosphate precipitation that involves the transition of the vascular smooth muscle cells (VSMCs) into osteoblast-like cells.
View Article and Find Full Text PDFObjective: This analysis evaluated efficacy and safety of filgotinib, a Janus-associated kinase 1-preferential inhibitor, in methotrexate (MTX)-naive patients with rheumatoid arthritis (RA) with multiple poor prognostic factors (PPFs).
Methods: This was a post hoc analysis of the phase III, randomised, double-blind, active-controlled, FINCH 3 study (clinicaltrials.gov NCT02886728).
In the medical literature, there are only a few references on refractory fibromyalgia and there is no consensus definition available on this concept. Some definitions of refractory fibromyalgia have been proposed based on the lack of response to a number of medications, and perhaps the most appropriate term is treatment-refractory fibromyalgia. To achieve the definition of treatment-refractory fibromyalgia, it is necessary to consider several previous steps, such as making sure the diagnosis has been made properly and a differential diagnosis with entities that can mimic fibromyalgia symptoms (including complete physical examination and laboratory test) has been made.
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