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Il report descrive le attività e i protocolli dal campionamento del fango di Depurazione da vasche anossiche, l'estrazione e la quantificazione del DNA presente nella matrice

Differenti studi hanno riscontrato nei pazienti con diagnosi di disturbo psicotico una diffusa compromissione delle funzioni esecutive, in particolare della Working Memory, e una tendenza a prendere decisioni rapidamente dovuta ad errori nel processamento di raccolta delle informazioni presenti nel contesto (Jumping To Conclusion, JTC). Obiettivo del presente studio é quello indagare la presenza di una possibile correlazione tra Working Memory e Jumping To Conclusions in un campione di pazienti al primo episodio psicotico. Per il presente studio sono stati valutati 41 pazienti all’esordio psicotico (58,5% M), di età media 29,63 (DS=10,285) e 89 controlli sani (47,2% M), di età media 33,31 (DS=12,817). I dati hanno mostrato che il Jumping To Conclusions è presente in 45 degli 89 soggetti del gruppo di controllo (51,1%) e in 31 dei 38 individui del gruppo dei casi (81,6%). Dalle percentuali ricavate, si nota come il gruppo dei casi fosse più propenso a “saltare alle conclusioni” rispetto ai controlli (χ2=10,28; p=0,001). Per quanto riguarda i compiti di Working Memory, i pazienti psicotici hanno ottenuto punteggi peggiori rispetto ai controlli. Infine, le analisi di correlazione svolte all’interno del gruppo dei casi rilevano la presenza di una correlazione significativamente positiva tra il punteggio ottenuto al Beads Task e tutti i compiti di Working Memory: Digit Span (rho=0,28; p=0,003), Digit Symbol (rho=0,27; p=0,002), Arithmetic (rho=0,26; p=0,003) e Block Design (rho=0,29; p=0,001). I risultati esposti sembrano inoltre supportare, in accordo con la letteratura, l’ipotesi di una possibile correlazione tra alterazioni a carico della Working Memory e deficit di raccolta dati Jumping To Conclusions.

Infertility is a common problem in patients with endometriosis and the involved mechanisms are still not completely known. The management of infertility in endometriosis patients includes surgery as well as assisted reproductive technology. Laparoscopic surgery has shown better results in infertility patients with endometriosis in comparison to laparotomy procedures. Laparoscopic surgery has proposed benefits in both minimal to moderate diseases. However, while there may be some benefits with severe diseases, there is still not enough evidence to recommend laparoscopic surgery as the recommended surgery when the main goal is to obtain fertility. We performed a MEDLINE search for articles on fertility in women with deep infiltrating endometriosis (DIE) published between 1990 and April 2015 using the following keywords: "endometriosis", "deep infiltrative endometriosis", "infertility", "fertility after surgery", "laparoscopy surgery", "laparotomy", "pregnancy", "fertility outcome", "bladder endometriosis", and "ureteral endometriosis". The aim of this review was to analyze the results of available clinical studies (randomized controlled or not controlled studies; retrospective cohort studies; or case-control and prospective studies) and guidelines on surgical treatment of infertile endometriosis patients, and pregnancy outcomes after surgery.

BACKGROUND The study aimed to estimate the growth rate of abdominal wall endometriosis (AWE) following cesarean section (CS), in order to potentially identify a growth model of endometriosis in vivo. METHODS This monocentric, retrospective study included 23 patients presenting 26 nodules of post-CS AWE treated by surgical excision. Nodule surface and volume, time-lapse between surgery and AWE as well as the contraception used were noted. A comparison between nodules' features was performed depending on hormonal vs. non-hormonal contraception. RESULTS The time-lapse between CS and AWE surgery had a mean value of 48 months. The mean surface of an AWE nodule was of 3.83 cm2, and the mean volume was of 5.32 cm3. Comparison between the main surface and volume in patients receiving hormonal vs. non-hormonal contraception was statistically non-significant. No statistically significant correlation between AWE dimension and time was revealed. In patients presenting more than one lesion, nodules appeared to grow following variable patterns. CONCLUSIONS AWE natural history was characterized by inter- and intra-individual variability, independently of the method of contraception used.

The present study aimed at assessing whether children with Cerebral Palsy (CP) can imagine object directed actions similarly to their normally developed peers. We asked children with CP (n = 12) and paired healthy controls (n = 12) to imagine in first person perspective eight daily actions, after observing them through videoclips presented on a computer screen. During motor imagery (MI) children were interrupted at a specific timepoint (e.g., at 2.5 s) from the start. Two frames extracted from the videoclips were then presented on the screen. One of the two depicted the correct timepoint at which the imagined action was interrupted, while the other represented an earlier or later timepoint. Children had to respond by pressing the key associated to the correct frame. Children also underwent VMIQ-2 questionnaire. Both groups performed similarly in the questionnaire and in the requested task, where they showed the same error rate. Errors mainly concerned the later frame, suggesting a similar strategy to solve the task in the two groups. The results support the view that children with CP can imagine actions similarly to their normally developed peers. This encourages the use of MI as a rehabilitative tool in children with motor impairment.

Testicular cancer is a rare tumor with a worldwide incidence that has increased over the last few decades. The majority of these tumors are testicular non-germ (TNGCTs) and germ cell tumors (TGCTs); the latter divided into two broad classes - seminomatous (SGCTs) and non-seminomatous germ cell tumors (NSGCTs). Although ultrasonography (US) maintains a primary role in the diagnostic workup of scrotal pathology, magnetic resonance imaging (MRI) has emerged as the imaging modality recommended for challenging cases, providing additional information to clarify inconclusive/equivocal US. In this work we describe and publicly share a collection of 44 images of annotated T2-weighted MRI lesions from 42 patients. Given that testicular cancer is a rare tumor, we are confident that this collection can be used to validate statistical models and to further investigate TNGCT and TGCT peculiarities using medical imaging features., Measurement(s) sex cord-gonadal stromal tumor Technology Type(s) magnetic resonance imaging Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing the reported data: 10.6084/m9.figshare.14511624

In a clinical contest, it is common to use dedicated phantoms to perform quality assurance test to check the performance of a SPECT system. Some of these phantoms are also used to calibrate the system for dosimetric evaluation of patients undergoing radiometabolic cancer therapy. In this work, a 3D-OSEM reconstructed 177Lu SPECT dataset of a homogeneous cylindrical phantom is described. This dataset was acquired to investigate the variation of the SPECT calibration factor, counts convergence, noise and uniformity by varying the number of subsets and iterations. In particular, the dataset is composed of images reconstructed using five different numbers of subsets and sixteen different numbers of iterations, for a total of 80 different configurations. The dataset is suitable for comparison with other reconstruction algorithms (e.g. FBP, MLEM, etc.) and radionuclides (e.g. technetium, yttrium). In regards to the uniformity issue, the same dataset allows the user to perform radiomic investigations on the influence of the border effect on the reconstructed images.

How to differentiate with MRI-based techniques testicular germ (TGCTs) and testicular non-germ cell tumors (TNGCTs) is still under debate and Radiomics may be the turning key. Our purpose is to investigate the performance of MRI-based Radiomics signatures for the preoperative prediction of testicular neoplasm histology. The aim is twofold: (i), differentiating TGCTs and TNGCTs status and (ii) differentiating seminomas (SGCTs) from non-seminomatous (NSGCTs). Forty-two patients with pathology-proven testicular neoplasms and referred for pre-treatment MRI, were retrospectively enrolled. Thirty-two out of 44 lesions were TGCTs. Twelve out of 44 were TNGCTs or other histologies. Two radiologists segmented the volume of interest on T2-weighted images. Approximately 500 imaging features were extracted. Least Absolute Shrinkage and Selection Operator (LASSO) was applied as method for variable selection. A linear model and a linear support vector machine (SVM) were trained with selected features to assess discrimination scores for the two endpoints. LASSO identified 3 features that were employed to build fivefold validated linear discriminant and linear SVM classifiers for the TGCT-TNGCT endpoint giving an overall accuracy of 89%. Four features were employed to build another SVM for the SGCT-SNGCT endpoint with an overall accuracy of 86%. The data obtained proved that T2-weighted-based Radiomics is a promising tool in the diagnostic workup of testicular neoplasms by discriminating germ cell from non-gem cell tumors, and seminomas from non-seminomas.

open 11 no This work was supported by grants from Fondazione Banco di Sardegna (FBS) (1175/2009.0470) to GD, from Associazione Italiana Studio Malformazioni (ASM) (2010) to PZ, from the Kyulan Family Foundation to EBa and from CINECA (computational resources to EBa). Partly supported also by grants from Fondo per la Ricerca Locale (ex 60%), Università di Cagliari, to PZ and from Fondo per la Ricerca Fondamentale Orientata (ex quota 60%), University of Bologna, to EM. Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by high heritability. It is known that genetic factors contribute to ASD pathogenesis. In particular, copy number variants (CNVs) are involved in ASD susceptibility and can affect gene expression regulation. 2p11.2 microdeletions encompassing ELMOD3, CAPG and SH2D6 genes have been described in four unrelated ASD families. The present study revealed that this microdeletion is responsible for the production of a chimeric transcript generated from the fusion between ELMOD3 and SH2D6. The identified transcript showed significantly higher expression levels in subjects carrying the deletion compared to control subjects, suggesting that it is not subjected to nonsense-mediated decay and might encode for a chimeric protein. In conclusion, this study suggests the possible involvement of this gene fusion, together with the other previously identified variants, in ASD. open Loi E.; Moi L.; Blois S.; Bacchelli E.; Vega Benedetti A.F.; Cameli C.; Fadda R.; Maestrini E.; Carta M.; Doneddu G.; Zavattari P. Loi E.; Moi L.; Blois S.; Bacchelli E.; Vega Benedetti A.F.; Cameli C.; Fadda R.; Maestrini E.; Carta M.; Doneddu G.; Zavattari P.

Simple Summary Pancreatic cancer remains a disease with a dismal outlook for patients, with high relapse rates after surgery and adjuvant treatments. Thanks to the high conformality achievable with advanced radiotherapy techniques, a more robust definition of clinical target volume (CTV) margins is mandatory. Moreover, a precise CTV definition may affect local control, minimizing radiation-related toxicity and allowing dose escalation. Contrary to two recent studies, RTOG contouring guidelines are not based on a pattern of failure analysis. We provided a local failure risk map in resected pancreatic cancer, validating the results of previous studies. Moreover, according to a new probabilistic approach, we provided new CTV contouring guidelines for the postoperative radiotherapy of pancreatic cancer, modeling targets’ margins on a combination of our validated local failure map (30% of local failures) and RTOG guidelines (70% of local failures). Abstract The study aimed to generate a local failure (LF) risk map in resected pancreatic cancer (PC) and validate the results of previous studies, proposing new guidelines for PC postoperative radiotherapy clinical target volume (CTV) delineation. Follow-up computer tomography (CT) of resected PC was retrospectively reviewed by two radiologists identifying LFs and plotting them on a representative patient CT scan. The percentages of LF points randomly extracted based on CTV following the RTOG guidelines and based on the LF database were 70% and 30%, respectively. According to the Kernel density estimation, an LF 3D distribution map was generated and compared with the results of previous studies using a Dice index. Among the 64 resected patients, 59.4% underwent adjuvant treatment. LFs closer to the root of the celiac axis (CA) or the superior mesenteric artery (SMA) were reported in 32.8% and 67.2% cases, respectively. The mean (± standard deviation) distances of LF points to CA and SMA were 21.5 ± 17.9 mm and 21.6 ± 12.1 mm, respectively. The Dice values comparing our iso-level risk maps corresponding to 80% and 90% of the LF probabilistic density and the CTVs-80 and CTVs-90 of previous publications were 0.45–0.53 and 0.58–0.60, respectively. According to the Kernel density approach, a validated LF map was proposed, modeling a new adjuvant CTV based on a PC pattern of failure.

Background Clustered protocadherins (PCDHs) map in tandem at human chromosome 5q31 and comprise three multi-genes clusters: α-, β- and γ-PCDH. The expression of this cluster consists of a complex mechanism involving DNA hub formation through DNA-CCTC binding factor (CTCF) interaction. Methylation alterations can affect this interaction, leading to transcriptional dysregulation. In cancer, clustered PCDHs undergo a mechanism of long-range epigenetic silencing by hypermethylation. Results In this study, we detected frequent methylation alterations at CpG islands associated to these clustered PCDHs in all the solid tumours analysed (colorectal, gastric and biliary tract cancers, pilocytic astrocytoma), but not hematologic neoplasms such as chronic lymphocytic leukemia. Importantly, several altered CpG islands were associated with CTCF binding sites. Interestingly, our analysis revealed a hypomethylation event in pilocytic astrocytoma, suggesting that in neuronal tissue, where PCDHs are highly expressed, these genes become hypomethylated in this type of cancer. On the other hand, in tissues where PCDHs are lowly expressed, these CpG islands are targeted by DNA methylation. In fact, PCDH-associated CpG islands resulted hypermethylated in gastrointestinal tumours. Conclusions Our study highlighted a strong alteration of the clustered PCDHs methylation pattern in the analysed solid cancers and suggested these methylation aberrations in the CpG islands associated with PCDH genes as powerful diagnostic biomarkers. Electronic supplementary material The online version of this article (10.1186/s13148-019-0695-0) contains supplementary material, which is available to authorized users.

Introduction A large body of literature has demonstrated that people affected by psychotic disorders show deficits in working memory, in Emotion Recognition (ER) and in data-gathering to reach a decision (Jumping To Conclusions – JTC). Aims To investigate a possible correlation between working memory, JTC and ER in FEP. Methods 41 patients and 89 healthy controls completed assessments of working memory using WAIS shortened version, JTC using the 60:40 Beads Task and ER using Degraded Facial Affect Recognition Task. Results According to the literature, cases had poorer performance in working memory tasks (Digit Span: μ7,72 [ds=2,98] vs μ10,14 [ds=3,10], U=865,00, p=0,00; Digit Symbol: μ5,36 [ds=2,43] vs μ10,05 [ds=3,10], U=455,50, p=0,00; Arithmetic: μ5,46 [ds=2,76] vs μ8,74 [ds=3,24], U=865,50, p=0,00; Block Design: μ4,82 [ds=2,72] vs μ7,60 [ds=3,18], U=912,00, p=0,00), in Beads Task (81,6% vs 51,1%, χ 2 =10,27, p=0,001, μ2,53 [ds=3,57] vs μ4,23 [ds=4,77], U=1171,00, p=0,006) and in DFAR (total errors: μ21,62 [ds=7,43] vs μ16,58 [ds=8,69], U=554,50, p=0,002). Furthermore working memory tasks in cases group correlated significantly with JTC (Digit Span: r rho =0,276, p=0,003; Digit Symbol: r rho =0,275, p=0,002; Arithmetic: r rho =0,265, p=0,003; Block Design: r rho =0,292, p=0,001), but only Digit Span with ER (r rho =-0,239; p=0,021). In addition, we found that JTC and ER were significantly associated (r rho =-0,281; p=0,004). Conclusions Data show that working memory impairments, JTC style and dysfunctions in the facial emotions recognition are phenomena strongly correlated in the group of patients. Preliminary results suggest the importance of early rehabilitation as the impairments detected may lead to difficulties in social and relational adaptation in psychotic patients.