Background: Integrating spiritual aspects into treatment plans can release essential resources for coping with chronic pain. However, some spiritual aspects may also induce distress and hinder the coping process. There is a lack of evidence regarding how to perform the clinical tasks of exploring spiritual aspects and of instruments assessing related competencies.
View Article and Find Full Text PDFThis study aimed to gather data on physical activity (PA), bleeding, health-related quality of life, and health status, using a wearable device and an electronic patient-reported outcome (ePRO) app, in individuals with moderate or severe hemophilia A (HA) without inhibitors receiving treatment according to the clinical practice. This is a 12-month multicenter cohort study conducted in Italy. The primary outcomes included the description of PA by type and intensity, adherence to World Health Organization guidelines, bleeding, and health-related quality of life by EQ-5D questionnaire.
View Article and Find Full Text PDFScholars of religion have repeatedly debated and contested the role of religion and spirituality in combatting climate change. In recent years, the potential of religion has also become an issue among natural scientists, politicians, environmental organizations, and civil society. Indeed, the potential of religion to mitigate climate change is perceived both internally and externally, and various expectations are placed on religion.
View Article and Find Full Text PDFIntroduction: Considering the advances in haemophilia management and treatment observed in the last decades, a new set of value-based outcome indicators is needed to assess the quality of care and the impact of these medical innovations.
Aim: The Value-Based Healthcare in Haemophilia project aimed to define a set of clinical outcome indicators (COIs) and patient-reported outcome indicators (PROIs) to assess quality of care in haemophilia in high-income countries with a value-based approach to inform and guide the decision-making process.
Methods: A Value-based healthcare approach based on the available literature, current guidelines and the involvement of a multidisciplinary group of experts was applied to generate a set of indicators to assess the quality of care of haemophilia.
The vertebrate 'neural plate border' is a transient territory located at the edge of the neural plate containing precursors for all ectodermal derivatives: the neural plate, neural crest, placodes and epidermis. Elegant functional experiments in a range of vertebrate models have provided an in-depth understanding of gene regulatory interactions within the ectoderm. However, these experiments conducted at tissue level raise seemingly contradictory models for fate allocation of individual cells.
View Article and Find Full Text PDF: Double-balloon enteroscopy (DBE) is a well-established procedure for direct visualisation of the entire small bowel mucosa, and, in contrast with other imaging techniques, allows to perform biopsies and therapeutic interventions. The aim of this study was to evaluate the indications, diagnostic yield, therapeutic yield, and complications of DBE in a cohort of consecutive patients according to patients' age. : We conducted a retrospective study of consecutive patients who underwent DBE in our endoscopy unit between January 2006 and December 2021.
View Article and Find Full Text PDFThe vertebrate inner ear arises from a pool of progenitors with the potential to contribute to all the sense organs and cranial ganglia in the head. Here, we explore the molecular mechanisms that control ear specification from these precursors. Using a multiomics approach combined with loss-of-function experiments, we identify a core transcriptional circuit that imparts ear identity, along with a genome-wide characterization of noncoding elements that integrate this information.
View Article and Find Full Text PDFHaemophilia
September 2022
Following the publication of a book of personal memories by one of us (CS ), we have attempted to synthesis our joint memories of three ageing men, born in the era preceding universal access to treatment, in an attempt to describe our experience, our challenges and our reflections on the development of therapies, which have ensured that our experience of growing up with haemophilia in the 1950s and 1960s has not been mirrored by the current generation of patients. We describe our upbringing in different parts of Europe in health care systems which, while of varying standards, were all unable to offer the kind of care which developed after the development of specific therapies. We assess the effect of the contamination of these therapies by blood-borne pathogens on our own development, and the development of our communities around us.
View Article and Find Full Text PDFBackground ad aim of workː the position of Italian law regarding participation of prophylactically treated hemophiliacs to organized sport trainings and competitions remains unclear and this study focuses on the eligibility of pediatric patients in particular. Methodsː 16 patients age 3 to 15 years old, with severe haemophilia and prophylaxis starting age of 20,2 ± 2,2 months were enrolled. Weight, height, body mass index (BMI) and joint status (Hemophilia Joint Health Score [HJHS] and Haemophilia Early Arthropathy Detection with UltraSound, HEAD-US score) of patients were evaluated at start (T0) and after 12 months (T12) of a HIITS sport activity program.
View Article and Find Full Text PDFStatus epilepticus (SE) is a condition in which seizures are not self-terminating and thereby pose a serious threat to the patient's life. The molecular mechanisms underlying SE are likely heterogeneous and not well understood. Here, we reveal a role for the RNA-binding protein Fragile X-Related Protein 2 (FXR2P) in SE.
View Article and Find Full Text PDFSensory placodes and neural crest cells are among the key cell populations that facilitated the emergence and diversification of vertebrates throughout evolution. Together, they generate the sensory nervous system in the head: both form the cranial sensory ganglia, while placodal cells make major contributions to the sense organs-the eye, ear and olfactory epithelium. Both are instrumental for integrating craniofacial organs and have been key to drive the concentration of sensory structures in the vertebrate head allowing the emergence of active and predatory life forms.
View Article and Find Full Text PDFThe investigation of mental health among persons with haemophilia is mostly focused on negative and disease-related indicators. Literature however shows that psychosocial resources and optimal daily functioning can co-exist with chronic disease. The Dual Continua Model operationalizes positive mental health as 'flourishing', a condition comprising emotional, psychological, and social well-being dimensions.
View Article and Find Full Text PDFThe celebration of the 25th anniversary of the Piedmont flood was organized by the University of Piemonte Orientale in Alessandria, a town that was severely affected in November 1994. It has been an opportunity to reexamine the meteorological event and assess the potential of CNR-ISAC models, after more than 20 years of development, to accurately simulate the heavy precipitation at different lead times. The predictability of this extreme event has been studied on a wide range of space and time scales, from subseasonal to convection resolving, using a variety of model setups and initial conditions.
View Article and Find Full Text PDFEndometrial glassy cell carcinoma (EGCC) is a rare neoplasm, accounting for 0.5% of the carcinomas in the endometrium, composed of cells with granular eosinophilic or amphophilic cytoplasm, giving it a ground glass appearance. Till date, only 14 cases of this carcinoma have been reported.
View Article and Find Full Text PDFThe thienopyrimidine TP053 is an antitubercular prodrug active against both replicating and nonreplicating () cells, which requires activation by the mycothiol-dependent nitroreductase Mrx2. The investigation of the mechanism of action of TP053 revealed that Mrx2 releases nitric oxide from this drug both in the enzyme assays with purified Mrx2 and in mycobacterial cultures, which can explain its activity against nonreplicating bacilli, similar to pretomanid activated by the nitroreductase Ddn. In addition, we identified a highly reactive metabolite, 2-(4-mercapto-6-(methylamino)-2-phenylpyrimidin-5-yl)ethan-1-ol, which can contribute to the antimycobacterial effects on replicating cells as well as on nonreplicating cells.
View Article and Find Full Text PDFPatient Relat Outcome Meas
August 2019
Background: Sexual health plays a primary role in quality of life (QoL) for many people, including those with hemophilia; however, there is little information available about sexual relationships and satisfaction in patients with hemophilia.
Methods: To address this issue, the Hemophilia Experiences, Results and Opportunities (HERO) and the Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) studies included questions from the Male Sexual Health Questionnaire (MSHQ).
Results: Although these data were not statistically analyzed for comparisons between the 3 populations (HERO, HERO US only, and B-HERO-S), in general, participants in the HERO survey appeared to be more satisfied with their sexual relationship than participants in the B-HERO-S survey.
The diagnosis and management of Inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), is still challenging. There is no definitive gold standard diagnostic test, which is made on patient history and with endoscopic and histological findings. This study analyzed serum proteins and fatty acids using mass spectrometry-based techniques.
View Article and Find Full Text PDFThe thymus plays a key role in myasthenia gravis (MG), a B cell-mediated autoimmune disorder affecting neuromuscular junction. Most MG patients have thymic abnormalities, including hyperplasia and thymoma, a neoplasm of thymic epithelial cells. Epstein-Barr virus (EBV) is associated with autoimmune diseases and tumors.
View Article and Find Full Text PDFBackground: The aim of our study was to test the long-term efficacy of Endo-SPONGE therapy in a group of patients treated in our center with vacuum-assisted therapy because of anastomotic leakages after colorectal surgery.
Methods: Eleven patients [male: 6; mean age: 71 (range: 44-82) years] who had anastomotic leakage treated with Endo-SPONGE placement were included in the study. Patient records were examined retrospectively.
Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal of all human cancers with a high mortality rate. Resistance to conventional treatments and chemotherapeutics is a typical feature of PDAC. To investigate the causes of drug resistance it is essential to deeply investigate the mechanism of action of chemotherapeutics.
View Article and Find Full Text PDFOne of the earliest manifestations of neural induction is onset of expression of the neural marker Sox2, mediated by the activation of the enhancers N1 and N2. By using loss and gain of function, we find that Sox2 expression requires the activity of JmjD2A and the Msk1 kinase, which can respectively demethylate the repressive H3K9me3 mark and phosphorylate the activating H3S10 (H3S10ph) mark. Bimolecular fluorescence complementation reveals that the adaptor protein 14-3-3, known to bind to H3S10ph, interacts with JMJD2A and may be involved in its recruitment to regulatory regions of the Sox2 gene.
View Article and Find Full Text PDFIn vertebrates, the inner ear arises from the otic placode, a thickened swathe of ectoderm that invaginates to form the otic vesicle. We report that histone demethylase KDM4B is dynamically expressed during early stages of chick inner ear formation. A loss of KDM4B results in defective invagination and striking morphological changes in the otic epithelium, characterized by abnormal localization of adhesion and cytoskeletal molecules and reduced expression of several inner ear markers, including Dlx3.
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