456 research outputs found

    No age effect in the prevalence and clinical significance of ultra-high risk symptoms and criteria for psychosis in 22q11 deletion syndrome: Confirmation of the genetically driven risk for psychosis?

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    BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is one of the highest known risk factors for schizophrenia. Thus, the detection of 22q11DS patients at particularly high risk of psychosis is important, yet studies on the clinical significance of the widely used ultra-high risk (UHR) criteria in 22q11DS are inconclusive. Since age was reported to moderate clinical significance of UHR symptoms in community samples, we explored whether age at presentation of UHR symptoms and criteria may explain part of this heterogeneity. METHODS: 111 patients with 22q11DS (8-30 years; 15.7±4.7) were assessed for UHR symptoms/criteria. Information on diagnoses, psychosocial functioning, and IQ were collected. RESULTS: Any UHR symptom was reported by 38.7%, any UHR criterion by 27%. No significant influence of age on the prevalence of UHR symptoms or criteria was detected. Moreover, age did not significantly modulate the association between UHR symptoms and functioning. However, significant interaction terms suggested that younger age groups were more likely to meet UHR criteria in the presence of UHR symptoms compared to the adult group. DISCUSSION: Compared to the general population, prevalence of UHR symptoms and criteria was 3.8-fold and 20.8-fold in our 22q11DS sample. Contrary to the general population, age only modulated the prevalence of UHR criteria among those with UHR symptoms, but not their prevalence per se or their clinical significance. This suggests that UHR symptoms might develop as a trait factor in terms of a genetically driven schizotypal disposition in 22q11DS, thus necessitating future studies on psychosis-risk indicators in this genetic high-risk group

    Experimental results on the physical model of an USBR type II stilling basin

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    The present paper describes the experimental campaign carried on the physical model of the spillway of Lower Diamphwe Dam (Malawi), which is provided with a USBR type II stilling basin. Stilling basins are used in order to reduce the excessive kinetic energy of flowing water downstream of spillways. Specifically, a USBR type II basin is provided with blocks at the end of the chute and with a confining dentated sill; these appurtenances allow to dissipate excess energy with high efficiency. The study focuses on the hydraulic behavior of the stilling basin; tests were carried on for different values of incoming discharge and downstream water depth. Results show the dissipation efficiency of the stilling basin in terms of pressure fluctuation and the variability of the jump type with the hydraulic characteristics of the incoming and the downstream flow depths

    New laboratory predictive tools in deep neck space infections

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    Introduction. Deep neck space infections (DNSIs) are a group of infective suppurative dis-eases involving deep neck spaces and cervical fascia. Necrotising and septic evolutions are rare, but severe complications can dramatically affect the prognosis and should be promptly managed. Clinical examination often has low sensitivity, although instrumental diagnosis may delay te treatment. We investigated two laboratory tools, LRINEC (Laboratory Risk Indicator for the Necrotizing fasciitis) and NLR (neutrophil to lymphocyte ratio), in the expectation to find a rapidly available predictive indicator that may help in distinguishing necrotising complications and/or systemic septic involvement. Methods. A retrospective observational cohort study was performed on 118 patients who had underwent surgical treatment for DNSIs at our Surgical Unit. LRINEC, NLR and the product LRINEC x NLR were calculated. Results. Statistical analysis showed that these scores may have utility in rapidly predicting the risk of necrotising fasciitis and systemic involvement at an early diagnostic stage. Conclusions. Further studies with a larger cohort may be necessary in order to increase the sensitivity and specificity

    Multiple vertebral hemangiomas of the thoracic spine with atypical radiological features and aggressive behavior causing myelopathy: A case report

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    Abstract Background Vertebral Haemangiomas (VHs) are frequent and generally asymptomatic benign tumors, involving the spine, usually incidentally found on computed tomography and magnetic resonance. Despite being usually asymptomatic and quiescent lesions, VHs can occasionally manifest aggressive features, leading to clinical manifestations such as back pain and neurological deficits. Case report. We report a case of a 54-year-old man, presented with 5 months history of pain, associated with lower limbs paraesthesia and weakness, gait disturbance and episodes of accidental falls. Radiological evaluation by spine pre- and post-contrast MRI indicated multiple vertebral hypervascular lesions, compatible with haemangiomas, involving from T3 to T11 levels, showing several different features (typical and atypical); aggressive haemangioma radiological pattern may be valuable at T3 and T4 vertebras. A thoracic spine pre- and post-contrast computed tomography confirmed the radiological diagnosis of multiple aggressive haemangiomas. Discussion Aggressive VH consists in a very rare subset of vertebral haemangiomas characterized by a greater tendency in being symptomatic. They may show atypical radiological features, that make their diagnosis very complex. In the recent years, many strategies for treatment of symptomatic or aggressive VHs have been developed, but the optimal treatment strategy is still controversial. Conclusion Although aggressive VHs being extremely rare, recognizing radiological features of these lesions is mandatory to achieve a correct diagnosis and appropriate therapeutic targets

    Minimally invasive percutaneous treatment for osteoid osteoma of the Spine. A case report

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    Osteoid osteomas are benign but painful bone-forming tumors usually involving long bones, with localization at the spine in 10-20% of the cases. The most common symptom is back pain responding to nonsteroidal anti-inflammatory drugs, but in some cases, also radicular pain can be present. For years, surgical excision has been considered the best choice of treatment for cases with unresponsive pain and has been practiced with a high percentage of success but also a high rate of fusion with instrumentation. In the last years, percutaneous radiofrequency ablation has been proposed as a new mini-invasive technique for the treatment of osteoid osteomas

    Prediction of ACL Injuries from Vertical Jump Kinetics in Division 1 Collegiate Athletes

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    # Background The incidence of ACL injuries continues to rise secondary to an increase in sport participation. Evidence supports the use of force plate testing to quantify kinetics during rehabilitation after injury and recovery; however, there is limited current research regarding if jump kinetics can identify athletes who are at higher risk for injury. Altered kinetics could potentially lead to abnormal force dissipation and resultant injury. # Purpose The purpose of this investigation was to identify whether the force-time variables from vertical jumps could predict ACL injuries in collegiate athletes. # Study Design Retrospective cohort. # Methods Vertical jump testing is performed by all healthy varsity collegiate athletes at several intervals throughout the athletic year at a Division I institution using a commercially available force plate system with dedicated software. Athletes who sustained an ACL injury between 1/1/15 and 6/1/19 were identified (n=16) and compared to healthy athletes who participated in the same sports (n = 262). ACL injuries were considered for this study if they occurred no more than 10 weeks after a jump test. The outcome variables were load, explode, and drive, operationally defined as the average eccentric rate of force development, average relative concentric force, and concentric relative impulse, respectively, which the system normalized to T scores. Mann-Whitney U tests were used to assess group differences for load, explode, drive, and the ratio between the variables. Logistic regression was used to determine if the battery of variables could predict whether or not an athlete would sustain an ACL injury. The p-value was set to 0.10 for the Mann-Whitney U tests, and 0.05 for the logistic regression. # Results Significant differences between the ACL and healthy groups were seen for explode (*p*=0.08), drive (*p*=0.06), load:explode ratio (*p*=0.06), and explode:drive ratio (*p*=0.03). Explode and drive, when entered into the regression equation, showed the ability to predict injury, χ2\chi^{2}= 6.8, df = 2, *p*=0.03. # Conclusions The vertical jump force plate variables were able to identify athletes who sustained an ACL injury within 66 days of testing. Athletes who sustained an ACL injury demonstrated altered kinetics and less ability to transmit forces during the vertical jump. # Level of Evidence 3\

    Risk factors for liver decompensation and hcc in hcv-cirrhotic patients after daas: A multicenter prospective study

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    Background: Prospective studies on predictors of liver-related events in cirrhotic subjects achieving SVR after DAAs are lacking. Methods: We prospectively enrolled HCV cirrhotic patients in four Italian centers between November 2015 and October 2017. SVR and no-SVR cases were compared according to the presence or absence of liver-related events during a 24-month follow-up. Independent predictors of liver-related events were evaluated by Cox regression analysis. Results: A total of 706 subjects started DAAs therapy. SVR was confirmed in 687 (97.3%). A total of 61 subjects (8.9%) in the SVR group and 5 (26.3%) in the no-SVR group had liver-related events (p < 0.03). The incidence rate x 100 p/y was 1.6 for HCC, 1.7 for any liver decompensation, and 0.5 for hepatic death. Baseline liver stiffness (LSM) ≥ 20 kPa (HR 4.0; 95% CI 1.1–14.1) and genotype different from 1 (HR 7.5; 95% CI 2.1–27.3) were both independent predictors of liver decompensation. Baseline LSM > 20 KPa (HR 7.2; 95% CI 1.9–26.7) was the sole independent predictor of HCC. A decrease in liver stiffness (Delta LSM) by at least 20% at the end of follow-up was not associated with a decreased risk of liver-related events. Conclusion: Baseline LSM ≥ 20 kPa identifies HCV cirrhotic subjects at higher risk of liver-related events after SVR

    Data on inflammasome gene polymorphisms of patients with sporadic malignant melanoma in a Brazilian cohort

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    AbstractThis article presents data related to our another article entitled, Genotyping and differential expression analysis of inflammasome genes in sporadic malignant melanoma reveal novel contribution of CARD8, IL1B and IL18 in melanoma susceptibility and progression (W.C. Silva, T.M. Oshiro, D.C. Sá, D.D.G.S. Franco, C. Festa Neto, A. Pontillo, 2016) [2]. Data presented here refers to the distribution of selected inflammasome SNPs in a Brazilian case/control cohort. We have identified 4 inflammasome related Single Nucleotide Polymorphisms (SNPs) for CARD8 (rs6509365); IL1B (rs1143643) and IL18 (rs5744256 and rs1834481) related to melanoma susceptibility/protection. This data can serve as a potential prognostic marker in sporadic malignant melanoma

    Anti-α-enolase Antibodies in Serum from Pediatric Patients Affected by Inflammatory Diseases: Diagnostic and Pathogenetic Insights

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    Human glycolytic enzyme α-enolase was associated with human diseases and with inflammation. An ELISA test was developed to measure anti-α-enolase AAE IgG and AAE IgA in the serum from patients affected by inflammatory diseases with the purpose to evaluate it as a novel diagnostic marker. 80 healthy blood donors and 194 paediatric patients affected by Juvenile idiopathic arthritis (JIA), celiac disease (CD), Crohn's Disease (CrD), hereditary periodic fever (HPF), and PFAPA syndrome were included in the study. HPF patients showed high levels of AAE antibodies, whereas JIA, CD, and CrD presented only partial results. Benign fevers such as PFAPA were almost negative for AAE Abs. These findings suggested that the genetic dysfunction of inflammasome associated with HPF could lead to the formation of AAE Abs that could be used for an early and easy diagnosis
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