Prevalence and clinical features of celiac disease in a cohort of italian children with autism spectrum disorders

Background: Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental conditions whose etiopathogenesis derives from a complex interaction between genetic liability and environmental factors. In this framework, mounting evidence suggests that immune system dysfunction could be a risk factor contributing to the development of ASD in at least a subpopulation of individuals. In particular, some studies suggest an association between celiac disease (CD)—a long‐term autoimmune disorder that primarily affects the small intestine triggered by the ingestion of gluten—and ASD, while others hypothesized a random link. This investigation aimed to evaluate the prevalence of CD in a large sample of school‐aged children with ASD and to characterize their clinical profile. Methods: Medical records of 405 children with ASD aged 5–11 years (mean age: 7.2 years; SD: 1.8 years) consecutively referred to a tertiary‐care university hospital between January 2014 and December 2018 were reviewed; among them, 362 had carried out serological testing for CD. Results: Nine patients with positive CD serology were identified, eight of which satisfied the criteria for CD diagnosis. The estimated CD prevalence in ASD children was 2.18% (95% CI, 0.8–3.7), which was not statistically different (1.58%; p = 0.36) from that of an Italian population, matched for age range, considered as a control group (95% CI, 1.26–1.90). Three out of the eight ASD patients with CD did not have any symptoms suggestive of CD. Conclusions: Our findings did not show a higher prevalence of CD in ASD children than in the control population, but could suggest the utility of routine CD screening, given its frequent atypical clinical presentation in this population

Micro-fragmented adipose tissue transplantation (Matt) for the treatment of acetabular delamination. a two years follow up comparison study with microfractures

Background: Delamination of acetabular articular cartilage is a common progressive abnormality in hips with femoroacetabular impingement. The aim of this study is to compare the effectiveness of two different procedures for the arthroscopic treatment of acetabular delamination: microfractures (MFx) and micro-fragmented autologous adipose tissue transplantation (MATT) technique. Methods: We carried out a controlled retrospective study of 35 patients affected by an acetabular cartilage delamination in femoroacetabular impingement (FAI). In all the selected cases the size of the defect ranged from 1 to 2 cm2, with a mean size of 1.9 cm² in MFx group and 1.6 cm² in MATT group (p=0.1). Of these, 18 patients were treated with MFx while 17 patients were treated with MATT. The two groups were similar in terms of clinical, functional and radiological aspects. All the patients were assessed before and after the procedure, for pain and function, with the modified Harris Hip Score (mHHS). The mean preoperative mHHS was 50±5 for MFx group and 53±6 for MATT group (p = 0.245). All the patients were followed-up for two years. Results: The final mHHS was 76±12 in MFx group and 97.1±3 in MATT group (p<0.001). In both groups neither a conversion to total hip arthroplasty nor a revision hip arthroscopy was observed. Conclusions: The results of this study provide proof that MATT technique improves clinical outcomes with a mHH scoring significantly higher than MFx group. (www.actabiomedica.it)

The role of the anterolateral ligament in knee’s biomechanics: a case–control retrospective study

Purpose: The aim of this study was to assess the functional and clinical results of patients who underwent ACL reconstruction surgery and were divided into subpopulations related to ACL-associated lesions and focused on ALL-associated lesion. Methods: Our retrospective analysis included 62 patients who underwent standard ACL reconstruction surgery in our hospital from 2014 to 2016. The mean follow-up period was 21 months (range 11–35). We divided the sample into two subpopulations due to the presence or absence of ALL tear at the preoperative MRI. In 42 patients out of 62 (68%), ALL lesion was evident. We evaluated in both subpopulations the ACL failure rate, the functional outcomes rated with IKDC, KOOS, Lysholm scores and the clinical assessment of anteroposterior and rotatory instability with the Lachman test and pivot-shift test. Results: The overall re-injury rate in our cohort of patients was 4.8% with a smaller but not a significant difference between the two groups. A statistically significant difference was observed for the three functional scores, favoring the isolated ACL-lesion group (p < 0.05). Similarly, a better Lachman score was observed in the isolated ACL-lesion group, without statistical significance (p = 0.77); overall, the rate of positive test was lower in the isolated ACL-lesion group. We observed a significant difference of residual rotatory instability (positive pivot-shift test) in the two subpopulations (p = 0.036), and 9% of patients in the ACL + ALL lesion group showed residual jerk or subluxation. Conclusion: The additional ALL reconstruction/repair surgery should always be considered in patients with evident ALL tear at the preoperative MRI

Evaluation of altered functional connections in male children with autism spectrum disorders on multiple-site data optimized with machine learning

No univocal and reliable brain-based biomarkers have been detected to date in Autism Spectrum Disorders (ASD). Neuroimaging studies have consistently revealed alterations in brain structure and function of individuals with ASD; however, it remains difficult to ascertain the extent and localization of affected brain networks. In this context, the application of Machine Learning (ML) classification methods to neuroimaging data has the potential to contribute to a better distinction between subjects with ASD and typical development controls (TD). This study is focused on the analysis of resting-state fMRI data of individuals with ASD and matched TD, available within the ABIDE collection. To reduce the multiple sources of heterogeneity that impact on understanding the neural underpinnings of autistic condition, we selected a subgroup of 190 subjects (102 with ASD and 88 TD) according to the following criteria: male children (age range: 6.5–13 years); rs-fMRI data acquired with open eyes; data from the University sites that provided the largest number of scans (KKI, NYU, UCLA, UM). Connectivity values were evaluated as the linear correlation between pairs of time series of brain areas; then, a Linear kernel Support Vector Machine (L-SVM) classification, with an inter-site cross-validation scheme, was carried out. A permutation test was conducted to identify over-connectivity and under-connectivity alterations in the ASD group. The mean L-SVM classification performance, in terms of the area under the ROC curve (AUC), was 0.75 ± 0.05. The highest performance was obtained using data from KKI, NYU and UCLA sites in training and data from UM as testing set (AUC = 0.83). Specifically, stronger functional connectivity (FC) in ASD with respect to TD involve (p < 0.001) the angular gyrus with the precuneus in the right (R) hemisphere, and the R frontal operculum cortex with the pars opercularis of the left (L) inferior frontal gyrus. Weaker connections in ASD group with respect to TD are the intra-hemispheric R temporal fusiform cortex with the R hippocampus, and the L supramarginal gyrus with L planum polare. The results indicate that both under-and over-FC occurred in a selected cohort of ASD children relative to TD controls, and that these functional alterations are spread in different brain networks

MPFL reconstruction and tibial tuberosity transposition in patients with patellar instability: May it troubleshots also trochlear dysplasia?

Purpose: This study aimed to highlight short- and medium-term outcomes of combined medial patello-femoral ligament (MPFL) reconstruction and anterior tibial tuberosity (ATT) transposition surgery in patients with recurrent patellar instability and different degrees of trochlear dysplasia. Methods: Between January 2014 and May 2019, 25 patients with patellar instability underwent a surgical procedure combining the lowering/transposition of the ATT and the MPFL reconstruction. Each patient were preoperative assessed by Kujala score, International Knee Documentation Committee (IKDC), Tegner activity level scale. The assessment of instability predisposing factors was carried out with patellar height, tibial tuberosity-trochlear groove (TT-TG) distance, trochlear dysplasia, sulcus angle, patellar tilt and MPFL injuries. Functional outcomes were evaluated with Kujala, IKDC and Tegner scores at 3, 6 and 12 months after surgery. Results: The average age of the patients was 20 years (range 13–43 years). Pre- operative Caton–Deschamps index was pathological in 10 (40%). Sulcus angle was elevated in 13 patients (52%) and TT-TG distance was irregular in 17 patients (68%). Trochlear dysplasia was present in 13 patients (9 type A, 3 type B, 1 type C according to Dejour’s Classification). No re-dislocation occurred during the follow-up. There was a significant increase in the Kujala, IKDC and Lysholm scores after 3, 6 and 12 months, and the results were compared for the different follow-up times and patient’s trochlear dysplasia degree. Conclusion: This prospective observational longitudinal study identified good clinical outcomes in patients who underwent MPFL reconstruction and ATT transposition for patellar instability. Finally, the different risk factors for patellar instability examined, particularly the presence of trochlear dysplasia, did not significantly influence the final functional results, which range from good to excellent without re-dislocation episodes

Focusing on autism spectrum disorder in xia–gibbs syndrome: Description of a female with high functioning autism and literature review

Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD

Effects of Probiotic Supplementation on Gastrointestinal, Sensory and Core Symptoms in Autism Spectrum Disorders: A Randomized Controlled Trial

The microbiota-gut-brain axis has been recently recognized as a key modulator of neuropsychiatric health. In this framework, probiotics (recently named “psychobiotics”) may modulate brain activity and function, possibly improving the behavioral profiles of children with Autism Spectrum Disorder (ASD). We evaluated the effects of probiotics on autism in a double-blind randomized, placebo-controlled trial of 85 preschoolers with ASD (mean age, 4.2 years; 84% boys). Participants were randomly assigned to probiotics (De Simone Formulation) (n=42) or placebo (n=43) for six months. Sixty-three (74%) children completed the trial. No differences between groups were detected on the primary outcome measure, the Total Autism Diagnostic Observation Schedule - Calibrated Severity Score (ADOS-CSS). An exploratory secondary analysis on subgroups of children with or without Gastrointestinal Symptoms (GI group, n= 30; NGI group, n=55) revealed in the NGI group treated with probiotics a significant decline in ADOS scores as compared to that in the placebo group, with a mean reduction of 0.81 in Total ADOS CSS and of 1.14 in Social-Affect ADOS CSS over six months. In the GI group treated with probiotics we found greater improvements in some GI symptoms, adaptive functioning, and sensory profiles than in the GI group treated with placebo. These results suggest potentially positive effects of probiotics on core autism symptoms in a subset of ASD children independent of the specific intermediation of the probiotic effect on GI symptoms. Further studies are warranted to replicate and extend these promising findings on a wider population with subsets of ASD patients which share targets of intervention on the microbiota-gut-brain axis. Clinical Trial Registration: ClinicalTrials.gov, identifier NCT02708901

Development and Evaluation of the Magnetic Properties of a New Manganese (II) Complex: A Potential MRI Contrast Agent

Magnetic resonance imaging (MRI) is a non-invasive powerful modern clinical technique that is extensively used for the high-resolution imaging of soft tissues. To obtain high-definition pictures of tissues or of the whole organism this technique is enhanced by the use of contrast agents. Gadolinium-based contrast agents have an excellent safety profile. However, over the last two decades, some specific concerns have surfaced. Mn(II) has different favorable physicochemical characteristics and a good toxicity profile, which makes it a good alternative to the Gd(III)-based MRI contrast agents currently used in clinics. Mn(II)-disubstituted symmetrical complexes containing dithiocarbamates ligands were prepared under a nitrogen atmosphere. The magnetic measurements on Mn complexes were carried out with MRI phantom measurements at 1.5 T with a clinical magnetic resonance. Relaxivity values, contrast, and stability were evaluated by appropriate sequences. Studies conducted to evaluate the properties of paramagnetic imaging in water using a clinical magnetic resonance showed that the contrast, produced by the complex [Mn(II)(L’)2] × 2H2O (L’ = 1.4-dioxa-8-azaspiro[4.5]decane-8-carbodithioate), is comparable to that produced by gadolinium complexes currently used in medicine as a paramagnetic contrast agent

Methodological framework for radiomics applications in Hodgkin’s lymphoma

Background: According to published data, radiomics features differ between lesions of refractory/relapsing HL patients from those of long-term responders. However, several methodological aspects have not been elucidated yet. Purpose: The study aimed at setting up a methodological framework in radiomics applications in Hodgkin’s lymphoma (HL), especially at (a) developing a novel feature selection approach, (b) evaluating radiomic intra-patient lesions’ similarity, and (c) classifying relapsing refractory (R/R) vs non-(R/R) patients. Methods: We retrospectively included 85 patients (male:female = 52:33; median age 35 years, range 19–74). LIFEx (www.lifexsoft.org) was used for [18F]FDG-PET/CT segmentation and feature extraction. Features were a-priori selected if they were highly correlated or uncorrelated to the volume. Principal component analysis-transformed features were used to build the fingerprints that were tested to assess lesions’ similarity, using the silhouette. For intra-patient similarity analysis, we used patients having multiple lesions only. To classify patients as non-R/R and R/R, the fingerprint considering one single lesion (fingerprint_One) and all lesions (fingerprint_All) was tested using Random Undersampling Boosting of Tree Ensemble (RUBTE). Results: HL fingerprints included up to 15 features. Intra-patient lesion similarity analysis resulted in mean/median silhouette values below 0.5 (low similarity especially in the non-R/R group). In the test set, the fingerprint_One classification accuracy was 62% (78% sensitivity and 53% specificity); the classification by RUBTE using fingerprint_All resulted in 82% accuracy (70% sensitivity and 88% specificity). Conclusions: Lesion similarity analysis was developed, and it allowed to demonstrate that HL lesions were not homogeneous within patients in terms of radiomics signature. Therefore, a random target lesion selection should not be adopted for radiomics applications. Moreover, the classifier to predict R/R vs non-R/R performed the best when all the lesions were used