71 research outputs found

    The prevalence of trunk asymmetries in the small island state of Malta

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    Background: Malta, the smallest member state of the European Union is constituted of two inhabited islands Malta and Gozo. In the Maltese islands there has not been any large population size definitive study concerning the incidence of trunk asymmetries that may indicate Adolescent Idiopathic Scoliosis (AIS) amongst the general population. Scoliosis is one of the most deforming orthopaedic conditions confronting children. To confirm the orthopaedic condition of scoliosis one has to carry out a visual examination that usually consists of the Adam’s Forward Bend test, this is followed by the measurement of trunk rotation with the use of a Bunnell Scoliometer. Should the angle of trunk rotation be more than five degrees then the positively screened student be referred for x-Rays and a 10 degree Cobb angle taken as being required to confirm the diagnosis of Scoliosis. The lack of a full scale study together with the apparent lack of awareness regarding the condition has prompted the authors to research the situation on all Gozitan children aged between 13 and 15 years of age. It was decided to measure Trunk Asymmetry and the aim of the study was to obtain statistical data on the occurrence of trunk asymmetries amongst the Gozitan population, to further analyse the ratio of distribution of trunk asymmetries between female and male students and finally to refer the positively screened students to the relevant medical authorities for x-ray to confirm a scoliosis diagnosis. Methods: This quantitative study design was carried out on all children aged between 13 to 15 years old over a five-month period. An Adam’s forward bend test and Scoliometer reading were taken for each participant consenting to this study. To minimse bias a qualified full time Physiotherapist graduated with a Bachelor of Science Honours degree in Physiotherapy since 2012, carried out these tests in the selected schools. Results: The results of the study concluded that 5.3% of the adolescent population in Gozo suffer from trunk asymmetries (13 out of 245). Prevalence of trunk asymmetry was calculated using the 95% confidence interval and the Chi square tests had a significant p-value. Further analysis showed that 69% of these were female and 31% were male. These results demonstrate that the prevalence of trunk asymmetries in Gozitan adolescents is comparable to that stated within the current literature. Conclusions: Results from the study confirms that trunk asymmetry is relatively common within the Maltese population. This might be indicative that a significant portion of the Maltese adolescent population might suffer from Adolescent Idiopathic Scoliosis. The intention of this research is to increase the general public’s awareness of the condition AIS, to make this condition more prominent to members of the allied professions, to reinforce the need for school screening projects and finally to ensure that the condition Trunk Asymmetry and Scoliosis is given the importance that it requires in the curriculum of study for physiotherapists.peer-reviewe

    The role of geographic knowledge in sub-city level geolocation

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    Geolocation of microblog messages has been largely investigated in the literature. Many solutions have been proposed that achieve good results at the city level. Existing approaches are mainly data-driven (i.e., they rely on a training phase). However, the development of algorithms for geolocation at sub-city level is still an open problem. In this paper, we investigate the role that external geographic knowledge can play in geolocation approaches. We show how different geographical data sources can be combined with a semantic layer within a knowledge base to achieve reasonably accurate sub-city level geolocation

    Role of pitrm1 in mitochondrial dysfunction and neurodegeneration

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    Mounting evidence shows a link between mitochondrial dysfunction and neurodegenerative disorders, including Alzheimer Disease. Increased oxidative stress, defective mitodynamics, and impaired oxidative phosphorylation leading to decreased ATP production, can determine synaptic dysfunction, apoptosis, and neurodegeneration. Furthermore, mitochondrial proteostasis and the protease-mediated quality control system, carrying out degradation of potentially toxic peptides and misfolded or damaged proteins inside mitochondria, are emerging as potential pathogenetic mechanisms. The enzyme pitrilysin metallopeptidase 1 (PITRM1) is a key player in these processes; it is responsible for degrading mitochondrial targeting sequences that are cleaved off from the imported precursor proteins and for digesting a mitochondrial fraction of amyloid beta (AÎČ). In this review, we present current evidence obtained from patients with PITRM1 mutations, as well as the different cellular and animal models of PITRM1 deficiency, which points toward PITRM1 as a possible driving factor of several neurodegenerative conditions. Finally, we point out the prospect of new diagnostic and therapeutic approaches.publishedVersio

    Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes

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    Fragile X syndrome (FXS) is a common form of intellectual disability and autism caused by the lack of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in RNA transport and protein synthesis. Upon cellular stress, global protein synthesis is blocked and mRNAs are recruited into stress granules (SGs), together with RNA-binding proteins including FMRP. Activation of group-I metabotropic glutamate (mGlu) receptors stimulates FMRP-mediated mRNA transport and protein synthesis, but their role in SGs formation is unexplored. To this aim, we pre-treated wild type (WT) and Fmr1 knockout (KO) cultured astrocytes with the group-I-mGlu receptor agonist (S)-3,5-Dihydroxyphenylglycine (DHPG) and exposed them to sodium arsenite (NaAsO2), a widely used inducer of SGs formation. In WT cultures the activation of group-I mGlu receptors reduced SGs formation and recruitment of FMRP into SGs, and also attenuated phosphorylation of eIF2α, a key event crucially involved in SGs formation and inhibition of protein synthesis. In contrast, Fmr1 KO astrocytes, which exhibited a lower number of SGs than WT astrocytes, did not respond to agonist stimulation. Interestingly, the mGlu5 receptor negative allosteric modulator (NAM) 2-methyl-6-(phenylethynyl)pyridine (MPEP) antagonized DHPG-mediated SGs reduction in WT and reversed SGs formation in Fmr1 KO cultures. Our findings reveal a novel function of mGlu5 receptor as modulator of SGs formation and open new perspectives for understanding cellular response to stress in FXS pathophysiology

    The contribution of nursing doctoral schools to the development of evidence 10 years after their establishment in Italy: An exploratory descriptive survey of former and current doctoral students’ publications

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    AimTo analyse through an exploratory descriptive survey how former and current doctoral students’ publications have contributed to the development of evidence between the establishment of the doctoral schools of nursing between 2006 - 2015.Design An exploratory descriptive survey.Methods We analysed the papers published in peer-reviewed journals by the four Italian PhD Schools of Nursing between 2006 - 2015. Additional missing information was retrieved from Web of Science.Results We identified 478 scientific papers. The papers increased from 12 in 2006 to 110 in 2015. Most are published in 29 journals, of which 15 have an impact factor ranging between 0.236-3.755. These results show the increasingly significant contribution of nursing doctoral programs to the production of evidence, which can be used to improve the quality of nursing and inform health policies. Nursing doctoral schools deserve a greater recognition, especially by Italian funding agencies and political institutions

    Altered surface mGluR5 dynamics provoke synaptic NMDAR dysfunction and cognitive defects in Fmr1 knockout mice

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    Metabotropic glutamate receptor subtype 5 (mGluR5) is crucially implicated in the pathophysiology of Fragile X Syndrome (FXS); however, its dysfunction at the sub-cellular level, and related synaptic and cognitive phenotypes are unexplored. Here, we probed the consequences of mGluR5/Homer scaffold disruption for mGluR5 cell-surface mobility, synaptic N-methyl-D-Aspartate receptor (NMDAR) function, and behavioral phenotypes in the second-generation Fmr1 knockout (KO) mouse. Using single-molecule tracking, we found that mGluR5 was significantly more mobile at synapses in hippocampal Fmr1 KO neurons, causing an increased synaptic surface co-clustering of mGluR5 and NMDAR. This correlated with a reduced amplitude of synaptic NMDAR currents, a lack of their mGluR5-Activated long-Term depression, and NMDAR/hippocampus dependent cognitive deficits. These synaptic and behavioral phenomena were reversed by knocking down Homer1a in Fmr1 KO mice. Our study provides a mechanistic link between changes of mGluR5 dynamics and pathological phenotypes of FXS, unveiling novel targets for mGluR5-based therapeutics

    The APpendicitis PEdiatric (APPE) score: a new diagnostic tool in suspected pediatric acute appendicitis

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    Our aim was to develop an APpendictis-PEdiatric score (APPE score) in quantifying risk of acute appendicitis based on combination of clinical and laboratory markers. 1025 patients were classified in: acute appendicitis (AA) and non-appendicitis. Demographic/clinical features, and laboratory were collected. They were compared for quantitative-variables and categorical-variables. Significant predictors (P=<0,05) were included in logistic regression model. Based on regression-coefficients, a diagnostic score was tested by calculating the area under the ROC curve. Two cut-offs were established to define classes of risk of AA. 9 variables were identified as potentially predictors for AA. Those underwent logistic regression and a score was assigned, for maximum 21-points. The score showed an area under the curve: 0.831 and a linear proportion with the state of appendicular inflammation (R20.85). Patients with a score ≀8 were at low risk of AA (sensitivity 94%); those with a score ≄15 were at high risk for AA (specificity 93%). Those between 8 and 15 were defined at intermediate risk class. APPE-score guides clinicians in classifying patients with suspected-AA according to clinical and laboratory findings in order to improve their management

    Conversion of the BASE Prion Strain into the BSE Strain: The Origin of BSE?

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    Atypical neuropathological and molecular phenotypes of bovine spongiform encephalopathy (BSE) have recently been identified in different countries. One of these phenotypes, named bovine “amyloidotic” spongiform encephalopathy (BASE), differs from classical BSE for the occurrence of a distinct type of the disease-associated prion protein (PrP), termed PrP(Sc), and the presence of PrP amyloid plaques. Here, we show that the agents responsible for BSE and BASE possess different biological properties upon transmission to transgenic mice expressing bovine PrP and inbred lines of nontransgenic mice. Strikingly, serial passages of the BASE strain to nontransgenic mice induced a neuropathological and molecular disease phenotype indistinguishable from that of BSE-infected mice. The existence of more than one agent associated with prion disease in cattle and the ability of the BASE strain to convert into the BSE strain may have important implications with respect to the origin of BSE and spongiform encephalopathies in other species, including humans

    Providing a nurse-led complex nursing INtervention FOcused on quality of life assessment on advanced cancer patients: The INFO-QoL pilot trial.

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    PURPOSE Unmet needs for advanced-disease cancer patients are fatigue, pain, and emotional support. Little information is available about the feasibility of interventions focused on patient-reported outcome measurement developed according to the Medical Research Council (MRC) Framework in advanced-disease cancer patients. We aimed to pilot a nurse-led complex intervention focused on QoL assessment in advanced-disease cancer patients. METHODS The INFO-QoL study was based on an exploratory, nonequivalent comparison group, pre-test-post-test design. Study sites received either the INFO-QoL intervention or usual care. Adult advanced-disease cancer patients admitted to hospice inpatient units that gave their informed consent were included in the study. Subjects were 187 patients and their families and 19 healthcare professionals. We evaluated feasibility, acceptability, and patients' outcomes using the Integrated Palliative Care Outcome Scale. RESULTS Nineteen healthcare professionals were included. The mean competence score increased significantly over time (p < 0.001) and the mean usefulness score was high 8.63 (±1.36). In the post-test phase, 54 patients were allocated to the experimental unit and 36 in the comparison unit. Compared to the comparison unit, in the experimental unit anxiety (R2 = 0.07; 95% CI = -0.06; 0.19), family anxiety (R2 = 0.22; 95% CI = -0.03; 0.41), depression (R2 = 0.31; 95% CI = -0.05; 0.56) and sharing feelings (R2 = 0.09; 95% CI = -0.05; 0.23), were improved between pre-test and post-test phase. CONCLUSIONS The INFO-QoL was feasible and potentially improved psychological outcomes. Despite the high attrition rate, the INFO-QoL improved the quality and safety culture for patients in palliative care settings
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