The Italian Dystonia Registry: rationale, design and preliminary findings.

The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy.

Angio-Architectural Features of High-Grade Intracranial Dural Arteriovenous Fistulas: Correlation With Aggressive Clinical Presentation and Hemorrhagic Risk.

Background: High-grade dural arteriovenous fistulas (dAVFs) can present shunts with very different angio-architectural characteristics. Specific hemodynamic factors may affect clinical history and determine very different clinical courses.

Objectives: To evaluate the relationship between some venous angio-architectural features in high-grade dAVFs and clinical presentation.

Non-cardiac Chest Pain: A Review for the Consultation-Liaison Psychiatrist.

Background: Patients presenting with chest pain to general practice or emergency providers represent a unique challenge, as the differential is broad and varies widely in acuity. Importantly, most cases of chest pain in both acute and general practice settings are ultimately found to be non-cardiac in origin, and a substantial proportion of patients experiencing non-cardiac chest pain (NCCP) suffer significant disability. In light of emerging evidence that mental health providers can serve a key role in the care of patients with NCCP, knowledge of the differential diagnosis, psychiatric co-morbidities, and therapeutic techniques for NCCP would be of great use to both consultation-liaison (C-L) psychiatrists and other mental health providers.

Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta-analysis.

The aim of this review was to provide strong clinical evidence of the efficacy of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in isolated inherited or idiopathic dystonia. Eligible studies were identified after a systematic literature review of the effects of bilateral GPi-DBS in isolated dystonia. Absolute and percentage changes from baseline in the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor and disability scores were pooled, and associations between treatment effect and patient characteristics were explored using meta-regression.

Giant Basilar Artery Aneurysm Involving the Origin of Bilateral Posterior Cerebral and Superior Cerebellar Arteries: Neck Reconstruction with pCONus-Assisted Coiling.

Giant aneurysms of the basilar artery are rare and are frequently associated with obstructive hydrocephalus and brainstem compression. Treatment still remains a challenge both for neurosurgeons and for interventional neuroradiologists. Cases reported in the literature are anecdotal and, overall, their outcomes are poor.

Minipterional Craniotomy for Treatment of Unruptured Middle Cerebral Artery Aneurysms. A Single-Center Comparative Analysis with Standard Pterional Approach as Regard to Safety and Efficacy of Aneurysm Clipping and the Advantages of Reconstruction.

Pterional craniotomy (PT) has long been the standard approach for the treatment of middle cerebral artery (MCA) aneurysms, even though it may cause temporalis muscle atrophy, facial nerve injury, and masticatory difficulties. Minipterional craniotomy (MPT) is an alternative approach that may provide the same surgical corridor, limiting the risk of postoperative esthetic and functional complications. From January 2011 to December 2014 we consecutively performed 68 craniotomies for surgical treatment of unruptured MCA aneuryms: 37 were standard PT and 31 were MPT.

The Positive Emotions after Acute Coronary Events behavioral health intervention: Design, rationale, and preliminary feasibility of a factorial design study.

Background: Positive psychological constructs, such as optimism, are associated with greater participation in cardiac health behaviors and improved cardiac outcomes. Positive psychology interventions, which target psychological well-being, may represent a promising approach to improving health behaviors in high-risk cardiac patients. However, no study has assessed whether a positive psychology intervention can promote physical activity following an acute coronary syndrome.

Immune Response in Calves Vaccinated with Type Three Secretion System Antigens and Shiga Toxin 2B Subunit of Escherichia coli O157:H7.

Ruminants are the primary reservoir of Shiga-toxin producing Escherichia coli (STEC) O157:H7 and the main source of infection for humans. The aim of this study was to assess the immunogenic properties of a candidate vaccine consisting on the recombinant proteins of E. coli O157:H7 IntiminC280, the carboxy-terminal fraction of Intimin γ, EspB and the fusion protein between the B subunit of Stx2 and Brucella Lumazine Synthase (BLS)(BLS-Stx2B), in Holstein Fresian calves.

Idiopathic delayed-onset edema surrounding deep brain stimulation leads: Insights from a case series and systematic literature review.

Introduction: Deep brain stimulation (DBS) is effective for some neurological and psychiatric conditions. Idiopathic delayed-onset edema (IDE) surrounding the leads has been anecdotally reported. The etiology, predisposing factors and prognosis of this complication are unknown.

A genome-wide association study in multiple system atrophy.

Objective: To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS).

Methods: We performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed.

Request and fulfillment of postpartum tubal ligation in patients after high-risk pregnancy.

Objective: Female sterilization is one of the most prevalent methods of contraception in the United States. Prior studies have shown that nearly half of postpartum tubal ligation (PPTL) requests go unfulfilled. This study seeks to establish whether obstetric or medical risk status influences patients' request for or subsequent completion of PPTL.

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken.

Objective: Our objective was to evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, and TSHR) in CH cases with GIS.

Recommendations for Premature Ovarian Insufficiency Surveillance for Female Survivors of Childhood, Adolescent, and Young Adult Cancer: A Report From the International Late Effects of Childhood Cancer Guideline Harmonization Group in Collaboration With the PanCareSurFup Consortium.

Purpose: Female survivors of childhood, adolescent, and young adult (CAYA) cancer who were treated with alkylating agents and/or radiation, with potential exposure of the ovaries, have an increased risk of premature ovarian insufficiency (POI). Clinical practice guidelines can facilitate these survivors' access to optimal treatment of late effects that may improve health and quality of survival; however, surveillance recommendations vary among the existing long-term follow-up guidelines, which impedes the implementation of screening.

Patients And Methods: The present guideline was developed by using an evidence-based approach and summarizes harmonized POI surveillance recommendations for female survivors of CAYA cancer who were diagnosed at age < 25 years.

Multiplexed and scalable super-resolution imaging of three-dimensional protein localization in size-adjustable tissues.

The biology of multicellular organisms is coordinated across multiple size scales, from the subnanoscale of molecules to the macroscale, tissue-wide interconnectivity of cell populations. Here we introduce a method for super-resolution imaging of the multiscale organization of intact tissues. The method, called magnified analysis of the proteome (MAP), linearly expands entire organs fourfold while preserving their overall architecture and three-dimensional proteome organization.

Quantitative gait analysis in parkin disease: Possible role of dystonia.

Introduction: Parkin disease (PARK2, OMIM 602544) is an autosomal-recessive early-onset parkinsonism characterized by an early occurrence of lower limb dystonia. The aim of this study was to analyze spatiotemporal, kinematic, and kinetic gait parameters in patients with parkin disease in the OFF and ON conditions compared to healthy age-matched controls.

Methods: Fifteen patients with parkin disease and 15 healthy age-matched controls were studied in a gait analysis laboratory with an integrated optoelectronic system.

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor.

Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor.

Postpartum contraceptive choice after high-risk pregnancy: a retrospective cohort analysis.

Objective: To evaluate the effect of high-risk pregnancy status on antepartum contraceptive planning and postpartum use.

Methods: We performed a retrospective cohort study of women delivering at a university hospital during 2009-2010 who received prenatal care in the faculty or resident clinics. We defined high-risk status by Society for Maternal-Fetal Medicine guidelines.

Endovascular Treatment of the Posterior Cerebral Artery Aneurysms: Single-Center Experience and a Systematic Review.

Background: Endovascular treatment of posterior cerebral artery aneurysms is challenging because of the particular features of posterior circulation vessels. We performed a systematic review of the literature, to assess safety and efficacy associated to their endovascular treatment.

Methods: Through a literature search, we identified 20 studies that met our inclusion criteria.

Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes.

Background And Purpose: Dystonia is difficult to recognize due to its large phenomenological complexity. Thus, the use of experts in dystonia is essential for better recognition and management of dystonia syndromes (DS). Our aim was to document managing strategies, facilities and expertise available in various European countries in order to identify which measures should be implemented to improve the management of DS.