Espressione e localizzazione subcellulare della Zinc Finger Protein 9, prodotto del gene della distrofia miotonica tipo 2

Espressione e localizzazione subcellulare della Zinc Finger Protein 9, prodotto del gene della distrofia miotonica tipo 2 Dr. M. B. Panico Il difetto genetico alla base della distrofia miotonica di tipo 2 (DM2) è una espansione CCTG localizzata nell’introne 1 della zinc finger protein 9 (ZNF9) (cromosoma 3q21). ZNF9 è una proteina di 19kDalton di peso molecolare, altamente conservata ed espressa in numerosi tessuti, ma la sua localizzazione cellulare e la sua funzione sono ancora sconosciute. Pertanto, abbiamo utilizzato un anticorpo policlonale precedentemente caratterizzato per studiare attraverso esperimenti di immunofluorescenza (IF) la localizzazione subcellulare di ZNF9 nel tessuto muscolare normale umano e di ratto. In sezioni muscolari longitudinali, l’anticorpo per ZNF9 mostrava un pattern di bandeggiatura trasversale regolare di 1-2 μm di spessore che si estendeva per tutta la lunghezza della fibra. In esperimenti di doppia IF osservata al microscopio confocale, ZNF9 presentava una colocalizzazione con proteine localizzate a livello della giunzione I-Z come l’ATPasi del reticolo sarcoplasmatico Ca/Mg, la regione T12 della titina e la desmina. Inoltre, in sezioni muscolari di pazienti con DM2 la distribuzione intracellulare di ZNF9 risultava paragonabile a quella dei controlli. Questi dati indicano che la proteina ZNF9 è espressa ad un livello elevato nelle miofibrille normali e la sua distribuzione cellulare non è alterata nella DM2.Expression and subcellular localization of myotonic dystrophy type 2 protein ZNF9 Dr. M.B.Panico The genetic defect underlying myotonic dystrophy type 2 (DM2) is a CCTG expansion located in intron 1 of the zinc finger protein 9 (ZNF9) gene in chromosome 3q21. ZNF9 is a 19kDa highly conserved protein expressed in various tissues, but its cellular localization and function are still unclear. We have therefore used a previously characterized polyclonal antibody to detect by immunofluorescence (IF) the subcellular localization of ZNF9 in normal human and rat skeletal muscle. In longitudinally sectioned myofibers, IF reactivity for ZNF9 appeared as regular transverse bands 1-1.2 μm thick, throughout the fiber width. In double IF experiments observed by confocal microscopy, ZNF9 showed co-localization with proteins localized at the I-Z band junction such as the sarcoplasmic reticulum Ca/Mg ATPase, the T12 region of titin and desmin. Moreover, in DM2 muscle the ZNF9 intracellular distribution was comparable to that of control. These data indicate that ZNF9 is highly expressed in normal myofibers and its cellular distribution is apparently not disrupted in DM2

A fresh look at spinal alignment and deformities: Automated analysis of a large database of 9832 biplanar radiographs

We developed and used a deep learning tool to process biplanar radiographs of 9,832 non-surgical patients suffering from spinal deformities, with the aim of reporting the statistical distribution of radiological parameters describing the spinal shape and the correlations and interdependencies between them. An existing tool able to automatically perform a three-dimensional reconstruction of the thoracolumbar spine has been improved and used to analyze a large set of biplanar radiographs of the trunk. For all patients, the following parameters were calculated: spinopelvic parameters; lumbar lordosis; mismatch between pelvic incidence and lumbar lordosis; thoracic kyphosis; maximal coronal Cobb angle; sagittal vertical axis; T1-pelvic angle; maximal vertebral rotation in the transverse plane. The radiological parameters describing the sagittal alignment were found to be highly interrelated with each other, as well as dependent on age, while sex had relatively minor but statistically significant importance. Lumbar lordosis was associated with thoracic kyphosis, pelvic incidence and sagittal vertical axis. The pelvic incidence-lumbar lordosis mismatch was found to be dependent on the pelvic incidence and on age. Scoliosis had a distinct association with the sagittal alignment in adolescent and adult subjects. The deep learning-based tool allowed for the analysis of a large imaging database which would not be reasonably feasible if performed by human operators. The large set of results will be valuable to trigger new research questions in the field of spinal deformities, as well as to challenge the current knowledge

The Coexistence of asthma and Chronic Ostructive Pulmonary Disease (COPD): prevalence and risk factors in young, middle-aged and elderly people from the general population

Background: The joint distribution of asthma and chronic obstructive pulmonary disease (COPD) has not been well described. This study aims at determining the prevalence of self-reported physician diagnoses of asthma, COPD and of the asthma-COPD overlap syndrome and to assess whether these conditions share a common set of risk factors. Methods: A screening questionnaire on respiratory symptoms, diagnoses and risk factors was administered by mail or phone to random samples of the general Italian population aged 20–44 (n = 5163) 45–64 (n = 2167) and 65–84 (n = 1030) in the frame of the multicentre Gene Environment Interactions in Respiratory Diseases (GEIRD) study. Results: A physician diagnosis of asthma or COPD (emphysema/chronic bronchitis/COPD) was reported by 13% and 21% of subjects aged &lt;65 and 65–84 years respectively. Aging was associated with a marked decrease in the prevalence of diagnosed asthma (from 8.2% to 1.6%) and with a marked increase in the prevalence of diagnosed COPD (from 3.3% to 13.3%). The prevalence of the overlap of asthma and COPD was 1.6% (1.3%–2.0%), 2.1% (1.5%–2.8%) and 4.5% (3.2%–5.9%) in the 20–44, 45–64 and 65–84 age groups. Subjects with both asthma and COPD diagnoses were more likely to have respiratory symptoms, physical impairment, and to report hospital admissions compared to asthma or COPD alone (p&lt;0.01). Age, sex, education and smoking showed different and sometimes opposite associations with the three conditions. Conclusion: Asthma and COPD are common in the general population, and they coexist in a substantial proportion of subjects. The asthma-COPD overlap syndrome represents an important clinical phenotype that deserves more medical attention and further research.</br

Imbalance between nitric oxide generation and oxidative stress in patients with peripheral arterial disease: Effect of an antioxidant treatment

BackgroundNitric oxide (NO), a potent vasodilator produced by endothelial cells, is reduced in patients with peripheral arterial disease (PAD), but the mechanism has not been fully elucidated. Because NO is rapidly inactivated by superoxide anion, we speculated that enhanced oxidative stress could lower NO generation. The aim of our study was to investigate if an imbalance between oxidative stress and NO does exist in patients with PAD and if an increase of NO formation could be achieved by an antioxidant treatment.MethodsIn a first study, serum levels of nitrite and nitrate (NOx), markers of NO generation, and 8-hydroxy-2-deoxyguanosine (8-OHdG), a marker of oxidative stress and maximal walking distance (MWD), were measured in 40 PAD patients and 40 controls. In a second study, 10 PAD patients were randomly allocated in a crossover design to intravenous propionyl-L-carnitine (6 g/day) or placebo for 7 days, with a washout of 30 days between the two phases of the trial. Serum levels of NOx and 8-OHdG were measured before and after the study.ResultsCompared with controls, serum levels of 8-OHdG (mean ± SD) were significantly increased in PAD patients (4.4 ± 3.1 ng/mL vs 2.4 ± 1.2 ng/mL; P < .001), and serum levels of NOx were significantly decreased (11.6 ± 6 μM vs 17 ± 6.1 μM; P < .001). Levels of 8-OHdG and NOx were inversely correlated (r = −0.879; P < .001). Serum levels 8-OHdG were inversely correlated with MWD (r = −0.48, P = .002). The interventional trial showed no changes in the patients given placebo. Patients treated with propionyl-L-carnitine showed a significant increase of MWD from 101 ± 31 meters to 129 ± 35 meters (P = .007) and in NOx from 14.5 ± 4.5 μM to 17.1 ± 3.8 μM (P = .007). A significant decrease of 8-OHdG from 3.6 ± 1.1 ng/mL to 2.6 ± 1 ng/mL was also found (P = .005.)ConclusionsThis study suggests that in PAD patients, the reduction of NO generation could be dependent upon enhanced oxidative stress

Data from a dynamic simulation in a free-floating and continuous regime of a solar greenhouse modelled in TRNSYS 17 considering simultaneously different thermal phenomena

This dataset supports the research article “Complete green- house dynamic simulation tool to assess the crop thermal well-being and energy needs”[1] . In the agricultural sector, the use of energy can be very intensive [2] and the sim- ulation of solar greenhouses is a very complex work [3] . This dataset provides the results of thermal modeling and dynamic simulation of a solar greenhouse considering si- multaneously several thermal phenomena. The analysis was performed by TRNSYS 17 software (TRaNsient SYstem Sim- ulation)

Effects of different vegetation types on burnt soil properties and microbial communities

The intensive wildfires recurring in the Mediterranean area modify soil physico-chemical properties, in turn inducing changes in soil microbial abundance and activity. Soils were sampled from burnt and adjacent unburnt sites within Vesuvius National Park 1 year after a large wildfire occurred in summer 2017. The aims of the present study were to evaluate the effects of fires on soil characteristics and to investigate whether different plant types contribute to mitigating or enhancing these effects. The results showed lower organic matter and water content and a higher C/N ratio in burnt than in unburnt soils. In particular, this trend was the same for all the plant types investigated, with the exception of soils covered by black locust tree and holm oak, which showed a higher C/N ratio in unburnt than in burnt soils. In soils covered by holm oaks, a shift in the bacterial and fungal fractions occurred between burnt and unburnt soils, whereas the amount of ammonia oxidisers was notably higher in burnt than in unburnt soils covered by black locusts; the highest N concentration was also measured in burnt soils covered by black locusts. The burnt soils showed a lower metabolic quotient and a higher rate of organic carbon mineralisation compared with unburnt soils, and this trend was particularly evident in soils under herbaceous plants. The findings suggest that soils covered by herbaceous species are more sensitive to fire effects and less able to restore their functionality compared with soils covered by trees

Tracers for Cardiac Imaging: Targeting the Future of Viable Myocardium

Ischemic heart disease is the leading cause of mortality worldwide. In this context, myocar- dial viability is defined as the amount of myocardium that, despite contractile dysfunction, maintains metabolic and electrical function, having the potential for functional enhancement upon revascular- ization. Recent advances have improved methods to detect myocardial viability. The current paper summarizes the pathophysiological basis of the current methods used to detect myocardial viability in light of the advancements in the development of new radiotracers for cardiac imaging

PET/CT Imaging in Mouse Models of Myocardial Ischemia

Different species have been used to reproduce myocardial infarction models but in the last years mice became the animals of choice for the analysis of several diseases, due to their short life cycle and the possibility of genetic manipulation. Many techniques are currently used for cardiovascular imaging in mice, including X-ray computed tomography (CT), high-resolution ultrasound, magnetic resonance imaging, and nuclear medicine procedures. Cardiac positron emission tomography (PET) allows to examine noninvasively, on a molecular level and with high sensitivity, regional changes in myocardial perfusion, metabolism, apoptosis, inflammation, and gene expression or to measure changes in anatomical and functional parameters in heart diseases. Currently hybrid PET/CT scanners for small laboratory animals are available, where CT adds high-resolution anatomical information. This paper reviews mouse models of myocardial infarction and discusses the applications of dedicated PET/CT systems technology, including animal preparation, anesthesia, radiotracers, and images postprocessing