122 research outputs found
Ultrasound Imaging in Sport-Related Muscle Injuries: Pitfalls and Opportunities
Muscle injuries occur frequently in athletes, accounting for more than one-third of sportrelated trauma. Athletes most affected by these injuries are those practicing football and track and
field, with hamstrings and gastrocnemius-soleus as the mainly involved sites. Muscle injuries lead
to loss of competitions, long recovery times and risk of re-injury with a consequent increase of the
management costs. It is therefore advisable to make an accurate and timely diagnosis to establish
appropriate interventions for proper healing in the shortest time. In this context, ultrasound imaging is widely used for diagnosis of musculoskeletal disorders because of several advantages including absence of radiation, portability, good spatial resolution, and the ability to perform dynamic
tests. The aim of this review is to address the role of US in the evaluation of athletes with muscle
injuries. US may play a pivotal role for the management of sport-related muscle injuries because it
is fast and relatively cheap, allowing dynamic muscle assessment and time series evaluation of the
healing proces
Crushed Bricks: Demolition Waste as a Sustainable Raw Material for Geopolymers
Demolition activity plays an important role in the total energy consumption of the construction industry in the European Union. The indiscriminate use of non-renewable raw materials, energy consumption, and unsustainable design has led to a redefinition of the criteria to ensure environmental protection. This article introduces an experimental plan that determines the viability of a new type of construction material, obtained from crushed brick waste, to be introduced into the construction market. The potential of crushed brick waste as a raw material in the production of building precast products, obtained by curing a geopolymeric blend at 60 °C for 3 days, has been exploited. Geopolymers represent an important alternative in reducing emissions and energy consumption, whilst, at the same time, achieving a considerable mechanical performance. The results obtained from this study show that the geopolymers produced from crushed brick were characterized by good properties in terms of open porosity, water absorption, mechanical strength, and surface resistance values when compared to building materials produced using traditional technologies
Diagnostic and Prognostic Value of Conventional Brain MRI in the Clinical Work-Up of Patients with Amyotrophic Lateral Sclerosis
open14noClinical signs of upper motor neuron (UMN) involvement are important in the diagnosis of amyotrophic lateral sclerosis (ALS) though are often difficult to analyze. Many studies using both qualitative and quantitative evaluations have reported abnormal Magnetic Resonance Imaging (MRI) findings at the level of the pyramidal pathway in patients with ALS. Although the most interesting results were obtained by quantitative studies using advanced MR techniques, the qualitative evaluation of MRI images remains the most-used in clinical practice. We evaluated the diagnostic and prognostic contribution of conventional 3T-MRI in the clinical work-up of ALS patients. Two neuroradiologists retrospectively assessed 3T-MRI data of 93 ALS patients and 89 controls. The features of interest were corticospinal tract (CST) T2/FLAIR hyperintensity, motor cortex (MC) T2*/SWI hypointensity, and selective MC atrophy. All MRI features were significantly more prevalent in ALS patients than in controls. The simultaneous presence of CST FLAIR hyperintensity and MC SWI hypointensity was associated with the highest diagnostic accuracy (sensitivity: 70%; specificity: 81%; positive predictive value, PPV: 90%; negative predictive value, NPV: 51%; accuracy: 73%) and a shorter survival (HR: 6.56,p= 0.002). Conventional 3T-MRI can be a feasible tool to detect specific qualitative changes based on UMN involvement and to support clinical diagnosis of ALS. Importantly, CST FLAIR hyperintensity and MC SWI hypointensity are predictors of shorter survival in ALS patients.openRizzo, Giovanni; Marliani, Anna Federica; Battaglia, Stella; Albini Riccioli, Luca; De Pasqua, Silvia; Vacchiano, Veria; Infante, Rossella; Avoni, Patrizia; Donadio, Vincenzo; Passaretti, Massimiliano; Bartolomei, Ilaria; Salvi, Fabrizio; Liguori, Rocco; On Behalf Of The BoReALS Group, nullRizzo, Giovanni; Marliani, Anna Federica; Battaglia, Stella; Albini Riccioli, Luca; De Pasqua, Silvia; Vacchiano, Veria; Infante, Rossella; Avoni, Patrizia; Donadio, Vincenzo; Passaretti, Massimiliano; Bartolomei, Ilaria; Salvi, Fabrizio; Liguori, Rocco; On Behalf Of The BoReALS Group, nul
Effectiveness of Ginseng, Rutin and Moringa for the Treatment of Erectile Dysfunction: A Systematic Review
Introduction, The aim of this systematic review was to evaluate the current evidence for the effectiveness of ginseng, Rutin and Moringa for treating erectile dysfunction. Methods, A broad search of the Scopus, PubMed, Cochrane and Web of Science databases was performed in complicance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. The following criteria were required for articles to be included in the review: English language; observational studies (cohort studies, case control/comparative studies, single-arm studies); randomized controlled trials; non-randomized comparative studies; case series; number of participants: ≥5 for case series or ≥5 patients per group for comparative studies. The Cochrane risk of bias (RoB) assessment tool for RCTs was used to assess the risk of bias of included studies. Results, Seven full-text articles were included in this review. All studies were randomized controlled trials. No studies on Rutin and Moringa alone matched the inclusion criteria. The methodological quality of the RCTs was variable. In all studies, the group treated with ginseng reported an improvement of erectile function (EF) compared to the control groups. IIEF and IIEF-5 were used to evaluate erectile function in six studies and in four of them, the improvement of the scores in the group treated with ginseng over the control group reached the statistical significance. Conclusion, This review suggests a positive effect of ginseng on EF in men. The association of ginseng along with other nutritional components with potential beneficial effects on ED appears promising and deserves further investigation in large randomized controlled trials
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study
Background: Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as TWNK. Objectives: The aim was to screen for TWNK variants in an Italian cohort of Parkinson's disease (PD) patients and to assess the occurrence of parkinsonism in patients presenting with TWNK-related autosomal dominant progressive external ophthalmoplegia (TWNK-adPEO). Methods: Genomic DNA of 263 consecutively collected PD patients who underwent diagnostic genetic testing was analyzed with a targeted custom gene panel including TWNK, as well as genes causative of monogenic PD. Genetic and clinical data of 18 TWNK-adPEO patients with parkinsonism were retrospectively analyzed. Results: Six of 263 PD patients (2%), presenting either with isolated PD (n = 4) or in combination with bilateral ptosis (n = 2), carried TWNK likely pathogenic variants. Among 18 TWNK-adPEO patients, 5 (28%) had parkinsonism. Conclusions: We show candidate TWNK variants occurring in PD without PEO. This finding will require further confirmatory studies. © 2022 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network
Background and objectives: Hereditary spastic paraplegias (HSPs) are a group of inherited rare neurologic disorders characterized by length-dependent degeneration of the corticospinal tracts and dorsal columns, whose prominent clinical feature is represented by spastic gait. Spastic paraplegia type 4 (SPG4, SPAST-HSP) is the most common form. We present both clinical and molecular findings of a large cohort of patients, with the aim of (1) defining the clinical spectrum of SPAST-HSP in Italy; (2) describing their molecular features; and (3) assessing genotype-phenotype correlations to identify features associated with worse disability.
Methods: A cross-sectional retrospective study with molecular and clinical data collected in an anonymized database was performed.
Results: A total of 723 Italian patients with SPAST-HSP (58% men) from 316 families, with a median age at onset of 35 years, were included. Penetrance was 97.8%, with men showing higher Spastic Paraplegia Rating Scale (SPRS) scores (19.67 ± 12.58 vs 16.15 ± 12.61, p = 0.009). In 26.6% of patients with SPAST-HSP, we observed a complicated phenotype, mainly including intellectual disability (8%), polyneuropathy (6.7%), and cognitive decline (6.5%). Late-onset cases seemed to progress more rapidly, and patients with a longer disease course displayed a more severe neurologic disability, with higher SPATAX (3.61 ± 1.46 vs 2.71 ± 1.20, p < 0.001) and SPRS scores (22.63 ± 11.81 vs 12.40 ± 8.83, p < 0.001). Overall, 186 different variants in the SPAST gene were recorded, of which 48 were novel. Patients with SPAST-HSP harboring missense variants displayed intellectual disability (14.5% vs 4.4%, p < 0.001) more frequently, whereas patients with truncating variants presented more commonly cognitive decline (9.7% vs 2.6%, p = 0.001), cerebral atrophy (11.2% vs 3.4%, p = 0.003), lower limb spasticity (61.5% vs 44.5%), urinary symptoms (50.0% vs 31.3%, p < 0.001), and sensorimotor polyneuropathy (11.1% vs 1.1%, p < 0.001). Increasing disease duration (DD) and abnormal motor evoked potentials (MEPs) were also associated with increased likelihood of worse disability (SPATAX score>3).
Discussion: The SPAST-HSP phenotypic spectrum in Italian patients confirms a predominantly pure form of HSP with mild-to-moderate disability in 75% of cases, and slight prevalence of men, who appeared more severely affected. Early-onset cases with intellectual disability were more frequent among patients carrying missense SPAST variants, whereas patients with truncating variants showed a more complicated disease. Both longer DD and altered MEPs are associated with worse disability
Innovative approaches to active and healthy ageing: Campania experience to improve the adoption of innovative good practices
The demographic projections on the
European population predict that people aged over
60 will increase by about two million/year in the next
decades. Since 2012, the Campania Reference Site of
the European Innovation Partnership on Active and
Healthy Ageing supports the innovation of the
Regional Health System, to face up demographic
changes and sustainability. Campania Reference Site
provides the opportunity to connect loco-regional
stakeholders in social and health care services
(universities, healthcare providers, social services,
local communities and municipalities), with
international organizations, in order to adopt and
scale up innovative solutions and approaches. This
paper describes the building process of Campania
Reference Site and the main results achieved, that
have been allowing it to become a hub for open
innovation in the field of active and healthy aging at
regional, national and international level
Serum Albumin Is Inversely Associated With Portal Vein Thrombosis in Cirrhosis
We analyzed whether serum albumin is independently associated with portal vein thrombosis (PVT) in liver cirrhosis (LC) and if a biologic plausibility exists. This study was divided into three parts. In part 1 (retrospective analysis), 753 consecutive patients with LC with ultrasound-detected PVT were retrospectively analyzed. In part 2, 112 patients with LC and 56 matched controls were entered in the cross-sectional study. In part 3, 5 patients with cirrhosis were entered in the in vivo study and 4 healthy subjects (HSs) were entered in the in vitro study to explore if albumin may affect platelet activation by modulating oxidative stress. In the 753 patients with LC, the prevalence of PVT was 16.7%; logistic analysis showed that only age (odds ratio [OR], 1.024; P = 0.012) and serum albumin (OR, -0.422; P = 0.0001) significantly predicted patients with PVT. Analyzing the 112 patients with LC and controls, soluble clusters of differentiation (CD)40-ligand (P = 0.0238), soluble Nox2-derived peptide (sNox2-dp; P < 0.0001), and urinary excretion of isoprostanes (P = 0.0078) were higher in patients with LC. In LC, albumin was correlated with sCD4OL (Spearman's rank correlation coefficient [r(s)], -0.33; P < 0.001), sNox2-dp (r(s), -0.57; P < 0.0001), and urinary excretion of isoprostanes (r(s), -0.48; P < 0.0001) levels. The in vivo study showed a progressive decrease in platelet aggregation, sNox2-dp, and urinary 8-iso prostaglandin F2 alpha-III formation 2 hours and 3 days after albumin infusion. Finally, platelet aggregation, sNox2-dp, and isoprostane formation significantly decreased in platelets from HSs incubated with scalar concentrations of albumin. Conclusion: Low serum albumin in LC is associated with PVT, suggesting that albumin could be a modulator of the hemostatic system through interference with mechanisms regulating platelet activation
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p
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