A Polygenic Risk Score of glutamatergic SNPs associated with schizophrenia predicts attentional behavior and related brain activity in healthy humans.

Multiple genetic variations impact on risk for schizophrenia. Recent analyses by the Psychiatric Genomics Consortium (PGC2) identified 128 SNPs genome-wide associated with the disorder. Furthermore, attention and working memory deficits are core features of schizophrenia, are heritable and have been associated with variation in glutamatergic neurotransmission.

DRD2 co-expression network and a related polygenic index predict imaging, behavioral and clinical phenotypes linked to schizophrenia.

Genetic risk for schizophrenia (SCZ) is determined by many genetic loci whose compound biological effects are difficult to determine. We hypothesized that co-expression pathways of SCZ risk genes are associated with system-level brain function and clinical phenotypes of SCZ. We examined genetic variants related to the dopamine D2 receptor gene DRD2 co-expression pathway and associated them with working memory (WM) behavior, the related brain activity and treatment response.

Prefrontal Activity and Connectivity with the Basal Ganglia during Performance of Complex Cognitive Tasks Is Associated with Apathy in Healthy Subjects.

Objective: Convergent evidence indicates that apathy affects cognitive behavior in different neurological and psychiatric conditions. Studies of clinical populations have also suggested the primary involvement of the prefrontal cortex and the basal ganglia in apathy. These brain regions are interconnected at both the structural and functional levels and are deeply involved in cognitive processes, such as working memory and attention.

Association of functional genetic variation in PP2A with prefrontal working memory processing.

Variation in prefrontal dopaminergic signaling mediated by D2 receptor has been implicated in cognitive phenotypes of schizophrenia, including working memory. Molecular cascades downstream of D2 receptor include a cAMP-dependent- and a cAMP-independent-pathway. Protein-Phosphatase-2A (PP2A) is a key partner of D2 receptor in cAMP-independent signaling.

Grey matter volume patterns in thalamic nuclei are associated with familial risk for schizophrenia.

Previous evidence suggests reduced thalamic grey matter volume (GMV) in patients with schizophrenia (SCZ). However, it is not considered an intermediate phenotype for schizophrenia, possibly because previous studies did not assess the contribution of individual thalamic nuclei and employed univariate statistics. Here, we hypothesized that multivariate statistics would reveal an association of GMV in different thalamic nuclei with familial risk for schizophrenia.

Cross-cultural adaptation and multi-centric validation of the Italian version of the Achilles tendon Total Rupture Score (ATRS).

Purpose: The purpose of this study was to translate the Achilles tendon Total Rupture Score (ATRS) into Italian and establish its cultural adaptiveness and validity.

Methods: The original version of the ATRS was translated into Italian in accordance with the stages recommended by Guillemin. A web-based survey was developed to test the construct validity of the Italian ATRS.

Surgical treatment of thyroid follicular neoplasms: results of a retrospective analysis of a large clinical series.

The most appropriate surgical management of "follicular neoplasm/suspicious for follicular neoplasm" lesions (FN), considering their low definitive malignancy rate and the limited predictive power of preoperative clinic-diagnostic factors, is still controversial. On behalf of the Italian Association of Endocrine Surgery Units (U.E.

Association of familial risk for schizophrenia with thalamic and medial prefrontal functional connectivity during attentional control.

Anomalies in behavioral correlates of attentional processing and related brain activity are crucial correlates of schizophrenia and associated with familial risk for this brain disorder. However, it is not clear how brain functional connectivity during attentional processes is key for schizophrenia and linked with trait vs. state related variables.

Inguino-scrotal herniation of the ureter containing stones.

Background: Inguino-scrotal herniation of the ureter is a rare and difficult situation for a surgeon, especially if only recognized during inguinal hernia repair.

Methods: An 83-year-old gentleman, with a previous history of radiation treatment for squamous anal cancer, presented with a large left inguinoscrotal hernia causing occasional pain at the base of the scrotum. Follow-up, post-radiation therapy CT scan showed a hernia sac containing the bladder and large bowel.

The role of the thalamus in schizophrenia from a neuroimaging perspective.

The thalamus is a crucial node for brain physiology and part of functional and structural pathways relevant for schizophrenia. Relatively few imaging studies on schizophrenia have focused on this brain region, yet extant evidence supports the association between this brain disorder and thalamic anomalies. Nevertheless, the mechanisms underlying this association remain largely conjectural.

Post-coma persons with extensive multiple disabilities use microswitch technology to access selected stimulus events or operate a radio device.

The present two studies extended research evidence on the use of microswitch technology by post-coma persons with multiple disabilities. Specifically, Study I examined whether three adults with a diagnosis of minimally conscious state and multiple disabilities could use microswitches as tools to access brief, selected stimulus events. Study II assessed whether an adult, who had emerged from a minimally conscious state but was affected by multiple disabilities, could manage the use of a radio device via a microswitch-aided program.

A case of aneurysm on a persistent hypoglossal artery treated by endovascular coiling.

We describe a 22-year-old woman admitted to hospital in emergency with nuchal headache and vomiting. CT scan disclosed subarachnoid hemorrhage. Digital subtraction angiography with three-dimensional rotational acquisitions showed a ruptured aneurysm of a right persistent primitive hypoglossal artery as the cause of symptoms and hemorrhage.

Clinical Features and Classification of Brain AVMs and Cranial DAVFs.

The clinical findings of intracranial vascular malformations are strictly related to their morphologic, angioarchitectural and hemodynamic characteristics. An overall study of these features is the first step to understand the different classifications for arteriovenous malformations, dural arteriovenous fistulas and carotid-cavernous fistulas. This evaluation will also suggest the correct timing of endovascular treatment and which part of the lesion should be the target of the therapy.

A dominant ovarian follicle induces unilateral changes in the origin of the blood supply to the tubal corner of the uterus.

Background: The blood supply to the tubal corner of the uterus may originate from the uterine and ovarian arteries. The border of supply from the arteries has been found to move in young women; the change seemed dependent on ovarian steroid production. The present work investigated whether the border of supply could differ between the two sides of the uterus in the same woman having one dominant follicle (>10 mm).

Estimating respiratory system compliance during mechanical ventilation using artificial neural networks.

Unlabelled: In this study we evaluated whether a technology based on artificial neural networks (ANN) could estimate the static compliance (C(RS)) of the respiratory system, even in the absence of an end-inspiratory pause, during continuous mechanical ventilation. A porcine model of acute lung injury was used to provide recordings of different respiratory mechanics conditions. Each recording consisted of 10 or more consecutive breaths in volume-controlled mechanical ventilation, followed by a breath having an end-inspiratory pause used to calculate C(RS) according to the interrupter technique (IT).

A comparison of surgical and conservative treatment in ankle ligament tears.

Good results have been reported after both primary repair and conservative management of grade III ankle sprains. This prospective study found no advantage of operative treatment compared to taping; no significant differences were found between the groups with regard to objective or subjective stability, functional scores, or the overall result.

Assessment of respiratory system mechanics by artificial neural networks: an exploratory study.

We evaluated 1) the performance of an artificial neural network (ANN)-based technology in assessing the respiratory system resistance (Rrs) and compliance (Crs) in a porcine model of acute lung injury and 2) the possibility of using, for ANN training, signals coming from an electrical analog (EA) of the lung. Two differently experienced ANNs were compared. One ANN (ANN(BIO)) was trained on tracings recorded at different time points after the administration of oleic acid in 10 anesthetized and paralyzed pigs during constant-flow mechanical ventilation.

Abdominal wall hernias: imaging with spiral CT.

Computed tomography is an accurate method of identifying the various types of abdominal wall hernias, especially if they are clinically occult, and of distinguishing them from other diseases such as hematomas, abscesses and neoplasia. In this study we examined the CT images of 94 patients affected by abdominal wall hernias observed over a period of 6 years. Computed tomography clearly demonstrates the anatomical site of the hernial sac, the content and any occlusive bowel complications due to incarceration or strangulation.

Intracytoplasmic sperm injection in infertile patients with structural cytogenetic abnormalities.

Objective: To investigate the incidence of chromosomal aberration in men and women in an intracytoplasmic sperm injection (ICSI) program for severe male infertility as well as in conceptuses resulting from these ICSI treatments.

Study Design: We evaluated chromosomal analysis, outcome of ICSI and the conceptuses resulting from treatment of 301 couples included in ICSI program.

Results: Cytogenetic evaluation demonstrated structural anomalies in 11 cases (3.