Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.

The autosomal dominant progeroid form of cutis laxa is a recently identified multiple congenital anomaly disorder characterized by thin, wrinkled skin, a progeroid appearance, intra-uterine growth retardation, postnatal growth restriction, psychomotor developmental delay, microcephaly, cataract, hypotonia and contractures. De novo heterozygous mutations in ALDH18A1 have been described in this condition. We present neuroimaging abnormalities in three patients.

Basal ganglia: Their role in complex cognitive procedures in experimental models and in clinical practice.

Apart from the well known role of the basal ganglia (BG) in motor control, their important role in regulating the cognitive functions is emerging. This article traces the scientific work that explores this role of BG in reinforcement learning, perceptual decision making, and other nonmotor pathways (speech fluency, cognition, attention and behaviour). It also highlights the important role played by the BG networks in determining the development of a child's brain.

Oncologists' and Intensivists' Attitudes Toward the Care of Critically Ill Patients with Cancer.

Background: Patients with cancer represent an important proportion of intensive care unit (ICU) admissions. Oncologists and intensivists have distinct knowledge backgrounds, and conflicts about the appropriate management of these patients may emerge.

Methods: We surveyed oncologists and intensivists at 2 academic cancer centers regarding their management of 2 hypothetical patients with different cancer types (metastatic pancreatic cancer and metastatic breast cancer with positive receptors for estrogen, progesterone, and HER-2) who develop septic shock and multiple organ failure.

Frontal Tasks and Behavior in Rigid or Tremor-Dominant Parkinson Disease.

Parkinson disease (PD) is not an unambiguous entity, and there is a general consensus for the statement that an akinetic-rigid dominant type of presentation has a worse prognosis, in the follow-up. The aim of our study was to examine the differences in frontal tasks and behavior, in 2 PD naive groups: the rigid and the tremor-dominant types of presentation, according to motor scores. Our study has showed some important differences in frontal tasks and in behavior, performing more apathy, aggressiveness, and irritability in the rigid type, and more depression and anxiety in the tremor-dominant type.

Vitamin D, Homocysteine, and Folate in Subcortical Vascular Dementia and Alzheimer Dementia.

Dementia is a worldwide health problem which affects millions of patients; Alzheimer's disease (AD) and subcortical vascular dementia (sVAD) are the two most frequent forms of its presentation. As no definite therapeutic options have been discovered, different risk factors for cognitive impairment have been searched for potential therapies. This report focuses on the possible evidence that vitamin D deficiency and hyper-homocysteinemia can be considered as two important factors for the development or the progression of neurodegenerative or vascular pathologies.

Analysis of patient outcomes following proton radiation therapy for retinoblastoma.

Purpose: Proton radiotherapy (PRT) is used in the treatment of retinoblastoma (RB) and has the potential to minimize exposure of normal tissue to radiation and thus decrease risk of toxicity and second malignancies. However, comprehensive analyses of long-term patient outcomes are not available.

Methods: RB patients treated with PRT at our institution between 1986 and 2012 were invited to return for participation in a study designed to assess long-term outcomes.

Rivastigmine as a Symptomatic Treatment for Apathy in Parkinson's Dementia Complex: New Aspects for This Riddle.

Over 90% of PDD patients show at least one neuropsychiatric symptom (NPS); in the 60-70% two or more NPS are present. Their incidence is important in terms of prognosis and severity of pathology. However, among all NPS, apathy is often the most disturbing, associated with greater caregiver's burden.

Lack of rivaroxaban influence on a prothrombinase-based assay for the detection of activated C protein resistance: an Italian ex vivo and in vitro study in normal subjects and factor V Leiden carriers.

Introduction: Activated protein C resistance (APCr) leads to hypercoagulability and is due, often but not exclusively, to Factor V Leiden (FVL). The aim of this study was to assess the ex vivo and in vitro interference of the direct factor Xa inhibitor rivaroxaban (RIV) on a prothrombinase-based assay for APCr detection.

Methods: An ex vivo study was performed on fresh plasma samples obtained from 44 subjects with FV wild-type and seven with FVL heterozygous, all treated with RIV.

In vivo feasibility of real-time MR-US fusion imaging lumbar facet joint injections.

Objectives: Traditionally, facet joint injections (FJI) are performed under fluoroscopic or computed tomography (CT) guidance, mainly due to the deep anatomical location and the presence of bony landmarks. Fusion imaging technology, which couples the ultrasound scan with the corresponding CT or magnetic resonance (MR) image obtained from the diagnostic examination and reformatted in real time according to the ultrasound scanning plane, allows to combine the panoramic view and the elevated anatomical detail of MR or CT with the ease of use of ultrasound without patient exposure to ionizing radiation.

Methods: Thirty eight patients (24 females; mean age ± SD: 64 ± 9 years) received MR fusion-assisted ultrasound-guided FJI of 1 ml of a mixture of local anaesthetic and corticosteroid using a ultrasound machine (Logiq E9, GE Healthcare) equipped with a GPS-enhanced fusion imaging technology which couples real-time B-mode images with those of the previous recent diagnostic MR examination.

Effect of dabigatran on a prothrombinase-based assay for detecting activated protein C resistance: an ex vivo and in vitro study in normal subjects and factor V Leiden carriers.

Background: The aim of this study was to evaluate ex vivo and in vitro interference of a direct factor IIa inhibitor, dabigatran, on a prothrombinase-based assay to detect activated protein C resistance.

Materials And Methods: An ex vivo study was performed in six heterozygous factor V Leiden carriers and 12 normal subjects without the factor V Leiden mutation who were treated with dabigatran. An in vitro study was also performed considering 12 plasma samples (six from normal subjects and six from heterozygous factor V Leiden carriers) spiked with dabigatran.

Complex neurological symptoms in bilateral thalamic stroke due to Percheron artery occlusion.

The artery of Percheron is a rare anatomical variant where a single thalamic perforating artery arises from the proximal posterior cerebral artery (P1 segment) between the basilar artery and the posterior communicating artery and supplies the rostral mesencephalon and both paramedian territories of the thalami. Almost one-third of human brains present this variant. Occlusion of the artery of Percheron mostly results in a bilateral medial thalamic infarction, which usually manifests with altered consciousness (including coma), vertical gaze paresis, and cognitive disturbance.

Outcomes in Critically Ill Patients with Cancer-Related Complications.

Introduction: Cancer patients are at risk for severe complications related to the underlying malignancy or its treatment and, therefore, usually require admission to intensive care units (ICU). Here, we evaluated the clinical characteristics and outcomes in this subgroup of patients.

Materials And Methods: Secondary analysis of two prospective cohorts of cancer patients admitted to ICUs.

Stability and Agreement of a Microtransducer and an Air-Filled Balloon Esophageal Catheter in the Monitoring of Esophageal Pressure.

Background: The use of esophageal catheters with microtransducer promises advantages over traditional catheters with air-filled balloons. However, performance comparisons between these 2 types of catheters are scarce and incomplete.

Methods: A catheter with a 9.

Chiari malformations: An important cause of pediatric aspiration.

Chronic aspiration poses a major health risk to the pediatric population. We describe four cases in which work up for chronic aspiration with a brain MRI revealed a Chiari I malformation, a poorly described etiology of pediatric aspiration. All patients had at least one non-specific neurologic symptom but had swallow studies more characteristic of an anatomic than a neurologic etiology.

Expression of the Endocannabinoid Receptor 1 in Human Stroke: An Autoptic Study.

Objective: Stroke is one of the leading causes of disability and death in the world. The endocannabinoid (eCB) system is upregulated in several neurological diseases including stroke. A previous animal study demonstrated an increased expression of the endocannabinoid receptor 1 (CB1R) in the penumbra area surrounding the ischemic core, suggesting a crucial role in inflammation/reperfusion after stroke.

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

Mutations in the colony stimulating factor 1 receptor (CSF1R) have recently been discovered as causal for hereditary diffuse leukoencephalopathy with axonal spheroids. We identified a novel, heterozygous missense mutation in CSF1R [c.1990G > A p.

Identifying decreased diaphragmatic mobility and diaphragm thickening in interstitial lung disease: the utility of ultrasound imaging.

Objective: To investigate the applicability of ultrasound imaging of the diaphragm in interstitial lung disease (ILD).

Methods: Using ultrasound, we compared ILD patients and healthy volunteers (controls) in terms of diaphragmatic mobility during quiet and deep breathing; diaphragm thickness at functional residual capacity (FRC) and at total lung capacity (TLC); and the thickening fraction (TF, proportional diaphragm thickening from FRC to TLC). We also evaluated correlations between diaphragmatic dysfunction and lung function variables.

Comparison of non-sedated brain MRI and CT for the detection of acute traumatic injury in children 6 years of age or less.

CT is considered the first-line study for acute intracranial injury in children because of its availability, detection of acute hemorrhage, and lack of sedation. An MRI study with rapidly acquired sequences can obviate the need for sedation and radiation. We compared the detection rate of rapid non-sedated brain MRI to CT for traumatic head injury in young children.

Quantifying Temporomandibular Joint Synovitis in Children With Juvenile Idiopathic Arthritis.

Objective: Juvenile idiopathic arthritis (JIA) frequently affects the temporomandibular joints (TMJs) and is often undetected by history, examination, and plain imaging. Qualitative assessment of gadolinium-enhanced magnetic resonance images (MRIs) is currently the standard for diagnosis of TMJ synovitis associated with JIA. The purpose of this study is to apply a quantitative analysis of synovial enhancement to MRIs of patients with and without JIA to establish a disease threshold and sensitivity and specificity for the technique.

Assessment of Pediatric Neurotrauma Imaging Appropriateness at a Level I Pediatric Trauma Center.

Purpose: The aim of this study was to assess the prevalence of appropriate neuroimaging on the basis of the ACR Appropriateness Criteria among pediatric patients presenting after head trauma to a level I emergency department.

Methods: A retrospective emergency department record review was performed for patients <18 years of age undergoing head CT or MRI for the indication "head trauma" between January 2013 and December 2014. Clinical history and symptoms were compared with the ACR Appropriateness Criteria; the indication was deemed appropriate for ratings of ≥7.

Quantifying Synovial Enhancement of the Pediatric Temporomandibular Joint.

Purpose: The purposes of this study were to assess a novel method for quantifying temporomandibular joint (TMJ) synovial enhancement on gadolinium-enhanced magnetic resonance imaging (MRI) and to establish normative values to allow early detection of synovitis.

Materials And Methods: This is a retrospective cohort study of pediatric patients (aged 0 to 16 years) without jaw pathology who underwent MRI scans with contrast that included the TMJs. From a coronal T1-weighted image, the signal intensity within the superior and inferior joint spaces was divided by the signal intensity of the longus capitis muscle to establish a ratio by age.