Publications by authors named "Perini S"

Polymorphic short insertions and deletions (INDELs ≤ 50 bp) are abundant, although less common than single nucleotide polymorphisms (SNPs). Evidence from model organisms shows INDELs to be more strongly influenced by purifying selection than SNPs. Partly for this reason, INDELs are rarely used as markers for demographic processes or to detect divergent selection.

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  • The study analyzes the oral microbiome of over 7,000 salivary samples from families with children diagnosed with autism spectrum disorders (ASD) to identify differences compared to neurotypical siblings.
  • Researchers found 108 species that differentiate ASD subjects from neurotypical counterparts, with specific connections to cognitive impairment measured by IQ.
  • The findings suggest potential links between the oral microbiome and neurodevelopmental factors related to ASD, while noting that lifestyle differences might also play a role.
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Purpose: To compare the endothelial coverage of different stents in porcine carotid arteries. Research problem: How effective are polyurethane stents (PU) and PU + rapamycin (PU + RAPA) compared to bare-metal stents on endothelial coverage by neointima in pigs after 28 days?

Methods: The methodology had two phases for an interventional, experimental, prospective study, with three Moura pigs, 12 weeks old and weighing between 19 and 22.5 kg.

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  • The genetic study of autism spectrum disorders (ASD) has identified over 100 risk genes, but the role of DNA methylation (an epigenetic factor) in ASD has not been thoroughly examined and shows varied results.
  • A research study analyzed DNA methylation and gene expression in whole blood samples from 75 sibling pairs, revealing a significant reduction of NK cells in ASD siblings, which indicates immune system imbalance.
  • The study identified key differential methylated regions linked to neurogenesis and synaptic organization, particularly highlighting the CLEC11A gene's methylation status as a potential biomarker for ASD, while confirming earlier findings of immune system involvement in the disorder's pathology.
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Iliac vein compression syndrome (IVCS) is defined as extrinsic compression of the left common iliac vein (LCIV) between the overlying right common iliac artery and the lumbar vertebra. The most severe complication is phlegmasia cerulea dolens (PCD), a medical emergency that requires quick intervention to prevent irreversible limb ischemia. This article reports the case of a patient with PCD as the first manifestation of IVCS.

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This work presents W-band (75-110 GHz) dielectric characterization of commercially available photoresins in their neat state, as well as in polymer matrix composite (PMC) mixtures with various loading concentrations of the paraelectric barium strontium titanate (BST). Due to difficulties 3D printing the BST-loaded PMC resins detailed within, a custom curing and casting process was used to fabricate testable PMC samples, which were synthesized to demonstrate the dielectric functionalization of the underlying polymer matrix. Dielectric characterization of the PMCs confirmed the functionalization of our composites when compared to the commercial photoresins.

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Primary aortic mural thrombus (PAMT) is defined as a thrombus attached to the aortic wall in the absence of any atherosclerotic or aneurysmal disease in the aorta and a cardiac source of embolus. There is no consensus on the ideal treatment of PAMT. There are a few reports of thromboaspiration of aortic thrombus in literature.

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A primary aortic mural thrombus (PAMT) is defined as a thrombus attached to the aortic wall in the absence of any atherosclerotic or aneurysmal disease of the aorta or any cardiac source of embolus. It is a rare entity that has high morbidity and mortality. There is no consensus on the ideal treatment of PAMT.

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Background: Aneurysm repair using endovascular techniques has grown in importance as materials have improved. Studies of endovascular prostheses require experimental models that reproduce anatomic and pathophysiological characteristics of human aneurysms.

Objectives: To describe a porcine model of abdominal aortic aneurysm.

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  • * Originating in East Africa around 1.8-1.6 million years ago (Ma), the Acheulean has less clear timelines in North Africa due to a lack of well-dated archaeological sites.
  • * Recent research provides a new chronology for the Thomas Quarry I-Unit L site in Morocco, establishing a reliable timeline for early North African Acheulean, showing its presence on the continent since at least 1.3 Ma.
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Purpose: To describe an unpublished experimental model of descending thoracic aortic aneurysm in pigs.

Methods: Ten Landrace female pigs aged 10 to 12 weeks old and with initial weights from 17 to 25 kg were anesthetized and their descending thoracic aortas exposed by fifth intercostal space left thoracotomy. The thoracic aorta was isolated.

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Background: Internet cognitive behavioural therapy (iCBT) is a viable delivery format of CBT for depression. However, iCBT programmes include training in a wide array of cognitive and behavioural skills via different delivery methods, and it remains unclear which of these components are more efficacious and for whom.

Methods: We did a systematic review and individual participant data component network meta-analysis (cNMA) of iCBT trials for depression.

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A set of three apparatus enabling RF exposure of aerosolized pathogens at four chosen frequencies (2.8 GHz, 4.0 GHz, 5.

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Importance: Personalized treatment choices would increase the effectiveness of internet-based cognitive behavioral therapy (iCBT) for depression to the extent that patients differ in interventions that better suit them.

Objective: To provide personalized estimates of short-term and long-term relative efficacy of guided and unguided iCBT for depression using patient-level information.

Data Sources: We searched PubMed, Embase, PsycInfo, and Cochrane Library to identify randomized clinical trials (RCTs) published up to January 1, 2019.

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Barriers to gene flow between divergent populations result in contact (hybrid) zones. Locations where multiple contact zones overlap can be used in comparative studies asking: what mechanisms maintain barriers; what is the origin of the genetic variation involved; and do differences in life history affect the nature of barriers? In a review of 23 marine species' genetic divergence over a postglacial salinity gradient, many showed steep genetic clines supported by divergent selection and/or temporal or spatial segregation. Contacts were primary or secondary and shaped by ancestral variation sometimes involving inversions.

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When divergent populations are connected by gene flow, the establishment of complete reproductive isolation usually requires the joint action of multiple barrier effects. One example where multiple barrier effects are coupled consists of a single trait that is under divergent natural selection and also mediates assortative mating. Such multiple-effect traits can strongly reduce gene flow.

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Polymer composites with electrically conductive fillers have been developed as mechanically flexible, easily processable electromagnetic interference (EMI) shielding materials. Although there are a few elastomeric composites with nanostructured silvers and carbon nanotubes showing moderate stretchability, their EMI shielding effectiveness (SE) deteriorates consistently with stretching. Here, a highly stretchable polymer composite embedded with a three-dimensional (3D) liquid-metal (LM) network exhibiting substantial increases of EMI SE when stretched is reported, which matches the EMI SE of metallic plates over an exceptionally broad frequency range of 2.

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Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. Parenteral copper supplementation has been used as a potential disease-modifying treatment of Menkes disease for decades. However, recent evidence suggests its efficacy only when treatment is started within days after birth, which also has important implications related to the techniques that enable early diagnosis.

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Little is known about clinically relevant changes in guided Internet-based interventions for depression. Moreover, methodological and power limitations preclude the identification of patients' groups that may benefit more from these interventions. This study aimed to investigate response rates, remission rates, and their moderators in randomized controlled trials (RCTs) comparing the effect of guided Internet-based interventions for adult depression to control groups using an individual patient data meta-analysis approach.

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Background: Almost nothing is known about the potential negative effects of Internet-based psychological treatments for depression. This study aims at investigating deterioration and its moderators within randomized trials on Internet-based guided self-help for adult depression, using an individual patient data meta-analyses (IPDMA) approach.

Method: Studies were identified through systematic searches (PubMed, PsycINFO, EMBASE, Cochrane Library).

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Background: Dedicated units for the care of acute coronary syndrome (ACS) have been submitted to economic evaluations; however, the results have not been systematically presented.

Objective: To identify and summarize economic outcomes of studies on hospital units dedicated to the initial care of patients with suspected or confirmed ACS.

Methods: A systematic review of literature to identify economic evaluations of chest pain unit (CPU), coronary care unit (CCU), or equivalent units was done.

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Ovine pregnancy toxaemia is a metabolic disorder affecting sheep in their last 6 weeks of pregnancy as a result of their inability to maintain adequate energy homoeostasis. Different alternative treatments are available with variable results. The aim of this research was to evaluate a peroxisome proliferator-activated receptor alpha (PPARα) stimulant as an alternative to treat clinical pregnancy toxaemia.

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Introduction: Obstructive sleep apnea has been associated with higher cancer incidence and mortality. Increased melanoma aggressivity was reported in obstructive sleep apnea patients. Mice exposed to intermittent hypoxia (IH) mimicking sleep apnea show enhanced melanoma growth.

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Background: Ovine pregnancy toxaemia is a common metabolic disorder of ewes due to increased foetal energy requirements in late pregnancy. This pathology is a metabolic condition characterized by hypoglycaemia and hyperketonaemia resulting in the inability of the animal to maintain an adequate energy balance. The response to treatment is effective, if it is started in the early stages of the disease, when irreversible neurological injuries have not yet been established.

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Background: Co-morbid anxiety and depression in older adults is associated with worse physical and mental health outcomes and poorer response to psychological and pharmacological treatments in older adults. However, there is a paucity of research focused on testing the efficacy of the co-morbid treatment of anxiety and depression in older adults using psychological interventions. Accordingly, the primary objective of the current study was to test the effects of a group cognitive behavior therapy (CBT) program in treating co-morbid anxiety and depression in a sample of older age adults.

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