Abstract
Retinal dystrophies such as
Retinitis pigmentosa
are among the most prevalent causes of inherited legal blindness, for which treatments are in demand. Retinal prostheses have been developed ...to stimulate the inner retinal network that, initially spared by degeneration, deteriorates in the late stages of the disease. We recently reported that conjugated polymer nanoparticles persistently rescue visual activities after a single subretinal injection in the Royal College of Surgeons rat model of
Retinitis pigmentosa
. Here we demonstrate that conjugated polymer nanoparticles can reinstate physiological signals at the cortical level and visually driven activities when microinjected in 10-months-old Royal College of Surgeons rats bearing fully light-insensitive retinas. The extent of visual restoration positively correlates with the nanoparticle density and hybrid contacts with second-order retinal neurons. The results establish the functional role of organic photovoltaic nanoparticles in restoring visual activities in fully degenerate retinas with intense inner retina rewiring, a stage of the disease in which patients are subjected to prosthetic interventions.
The COVID-19 pandemic has represented a hazardous situation for individuals with Autism Spectrum Disorder (ASD) and their families. The difficulties, following the COVID-19-derived lockdown, have ...involved working from home or loss of employment, and the demands of looking after their children without the daily support of specialists. The aim of this study was to evaluate the adaptive behaviour of young adult participants with ASD after the enforcement of lockdown measures in March 2020 in a specialised centre in central Italy, by administering the Italian form of the Vineland Adaptive Behaviour Scales Second Edition (VABS-II), at baseline as well as 6 months and 1 year after the lockdown. Participants with ASD who were not able to access their normal, in-person care – they were only followed at a distance (i.e. telehealth) – declined dramatically in their adaptive behaviour during the first months after the lockdown for some VABS-II dimensions such as the socialisation and daily living domains. The effects of the lockdown on adaptive behaviour remained after 1 year. Our results emphasise the need for immediate, continuous and personal support for people with ASD during and after the restrictions caused by the COVID-19 pandemic, in order to ensure at least partial recovery of adaptive functioning.
•Global pandemic represented a challenge for individuals with Autism Spectrum Disorder.•We investigated adaptive behaviour of young adults with ASD after lockdown.•Adaptive skills have worsened and their recovery will take place in the long term.
Transient elastography (TE) is adequate for a diagnosis of cirrhosis, but its accuracy for milder stages of fibrosis is much less satisfactory. The objective of this study was to compare the ...performance and the discordance rate of acoustic radiation force impulse (ARFI) and TE with liver biopsy in a cohort of chronic hepatitis C (CHC) patients.
One hundred thirty-nine consecutive patients with CHC were enrolled in two tertiary centers, and evaluated for histological (Metavir score) and biochemical features. All patients underwent TE and ARFI.
TE was unreliable in nine patients (6.5%), while in no cases (0%) were ARFI invalid measurements recorded (P=0.029). By area under receiver operating characteristic curve (AUROC), the best cutoff values for TE and ARFI for significant fibrosis (≥F2) were ≥6.5 kPa (AUROC: 0.78) and ≥1.3 m/s (AUROC: 0.86), respectively. For severe fibrosis (F3-F4), these cutoff values were 8.8 kPa (AUROC: 0.83) for TE and 1.7 m/s (AUROC: 0.94) for ARFI. For cirrhosis, TE had its best cutoff at ≥11 kPa (AUROC: 0.80) and ARFI at ≥2.0 m/s (AUROC: 0.89). By pairwise comparison of AUROC, ARFI was significantly more accurate than TE for a diagnosis of significant and severe fibrosis (P=0.024 and P=0.002, respectively), while this difference was only marginal for cirrhosis (P=0.09). By partial AUROC analysis, ARFI performance results significantly higher for all three stages of fibrosis. The average concordance rates of TE and ARFI vs. liver biopsy were 45.4 and 54.7%, respectively. By multivariate analysis, ARFI was not associated with alanine aminotransferase (ALT), body mass index, Metavir grade, and liver steatosis, while TE was significantly correlated with the ALT value (P=0.027).
In a cohort of patients with CHC, ARFI imaging was more accurate than TE for the non-invasive staging of both significant and severe classes of liver fibrosis.
In this work the combination of active coating and modified-atmosphere packaging (MAP) was used to prolong the shelf life of Fior di Latte cheese. The active coating was based on sodium alginate (8% ...wt/vol) containing lysozyme (0.25mg/mL) and EDTA, disodium salt (Na2-EDTA, 50mM). The MAP was made up of 30% CO2, 5% O2, and 65% N2. The speed of quality loss for the Fior di Latte cheese, stored at 10°C, was assessed by monitoring pH and weight loss, as well as microbiological and sensorial changes. Results showed that the combination of active coating and MAP improved Fior di Latte cheese preservation, increasing the shelf life to more than 3 d. In addition, the substitution of brine with coating could allow us to gain a double advantage: both preserving the product quality and reducing the cost of its distribution, due to the lower weight of the package.
Autism spectrum disorder (ASD) is a set of heterogeneous neurodevelopmental conditions, characterised by difficulties in social communication and restricted, repetitive behaviours and interests. ...There are several rehabilitative interventions for individuals with ASD but the evidence of their effectiveness is low or moderate overall. The transition phase of ASD individuals from adolescence to adulthood represents an important challenge. Adults with ASD struggle to access employment or independent living.
In our study, we evaluated the effect of three different high-intensity interventions, namely Applied Behaviour Analysis (ABA), Treatment and Education of Autistic and Communication-Handicapped Children (TEACCH) and Behavioural Educational Intervention (BEI), in 93 ASD (levels 2 and 3) adolescents (age range 12-18 years).
Our results showed that all adolescents with ASD reported an improvement of core symptoms, regardless of the type of treatment.
A high intensity intervention ameliorates the core symptoms of ASD, enriching evidence of effectiveness regarding adolescents with ASD.
KEY POINTS
Individuals with ASD need lifespan support and they struggle to access employment, independent living and community inclusion.
There are several rehabilitative interventions for individuals with ASD but the evidence of their effectiveness in adolescents is insufficient.
The main purpose of this study was to evaluate the possible enhancement produced by three intensive interventions (ABA, TEACCH, BEI) of symptom severity and adaptive functions.
Results show that independently of the treatment, individuals with ASD decrease in ASD severity.
Individuals who were treated with the BEI and TEACCH programmes reported improvements in the adaptive domains.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Abstract
Aim
In this study, we have compared 229 Wechsler Adults Intelligence Scale – Fourth Edition (WAIS-IV) cognitive profiles of different severity adults with autism spectrum disorder to verify ...the impact of several variables including sex, age, level of education and autism severity level in an Italian sample. Moreover, we wanted to find out the optimal cut points for the major intelligence quotients in order to discriminate autism severity levels.
Methods
Participants were recruited from two National Health System Center in two different Italian regions and were assessed with gold-standard instruments as a part of their clinical evaluation. According to DSM-5, cognitive domains were also measured with multi-componential tests. We used the Italian adaptation of WAIS-IV. We checked our hypotheses using linear regression models and receiver operating characteristics (ROC) curves.
Results
Our results showed that age and level of education have a strong impact on Verbal Comprehension (VCI) and Working Memory Indexes (WMI). Gender differences are relevant when considering the VCI and Processing Speed index (PSI) in which women obtained the best performance. These differences are still relevant when considering cut points of ROC because 69 resulted to be the optimal cut point for women, 65 for men.
Conclusions
Few conclusions can be assumed only examining Full Scale Intelligence Quotient (FSIQ) scores as it includes many different information about broader cognitive abilities. Looking deeper at main indexes and their subtests findings are consistent with previous research on the disorder (moderate correlations of FSIQ, Perceptual Reasoning index, WMI and PSI with the participants’ age), while other results are unforeseen (no effect of sex found on FSIQ score) or novel (significant effect of education on VCI and WMI). Using an algorithm predicting optimal cut point for discriminating through autism severity levels can help clinicians to better label and quantify the required help a person may need, a test cannot replace diagnostic and clinical evaluation by experienced clinicians.
The next wave of nuclear energy technology has the potential to facilitate deep decarbonisation. Presentations and discussions from a recent conference explored barriers and pathways to realisation ...of this potential. The areas addressed included economics, government support, equity, regulatory clarity, supply chain security, and appeal to environmental, social, governance (ESG) investors, as briefly summarised herein.
Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been ...identified. NPHP can be associated with retinal degeneration (Senior-Løken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis.
To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping.
The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67. When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations. This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype. Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis.
Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11). This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs. Thus NPHP, JBTS, and MKS represent allelic disorders.
The aim of this work is to evaluate the shelf life of Stracciatella cheese packaged in a protective atmosphere, using 4 different CO2:N2:O2 gas mixtures 50:50:0 (M1), 95:5:0 (M2), 75:25:0 (M3), and ...30:65:5 (M4) vol/vol and stored at 8°C. Cheese in traditional tubs and under vacuum were used as the controls. Results showed that the modified-atmosphere packaging, in particular M1 and M2, delayed microbial growth of spoilage bacteria, without affecting the dairy microflora, and prolonged the sensorial acceptability limit.
Authors of the most recent study of athletic training (AT) services have suggested that only 42% of secondary schools have access to athletic trainers. However, this study was limited by a small ...sample size and was conducted more than 10 years ago.
To determine current AT services in public secondary schools.
Cross-sectional study.
Public secondary schools in the United States.
A total of 8509 (57%) of 14,951 secondary schools from all 50 states and Washington, DC, responded to the survey.
Data on AT services were collected for individual states, National Athletic Trainers' Association districts, and the nation.
Of the 8509 schools that responded, 70% (n = 5930) had AT services, including full-time (n = 3145, 37%), part-time (n = 2619, 31%), and per diem (n = 199, 2%) AT services, and 27% (n = 2299) had AT services from a hospital or physical therapy clinic. A total of 4075 of 8509 schools (48%) provided coverage at all sports practices. Eighty-six percent (2,394,284/2,787,595) of athletes had access to AT services.
Since the last national survey, access to AT services increased such that 70% of respondent public secondary schools provided athletic trainers at sports games or practices. Approximately one-third of all public secondary schools had full-time athletic trainers. This number must increase further to provide appropriate medical coverage at athletic practices and games for secondary school athletes.