Genomics of Fibromuscular Dysplasia.

Fibromuscular Dysplasia (FMD) is “an idiopathic, segmental, non-atherosclerotic and non-inflammatory disease of the musculature of arterial walls, leading to stenosis of small and medium-sized arteries” (Persu, et al; 2014). FMD can lead to hypertension, arterial dissections, subarachnoid haemorrhage, stroke or mesenteric ischemia. The pathophysiology of the disease remains elusive.

The cortical damage, early relapses, and onset of the progressive phase in multiple sclerosis.

Objective: To investigate the relationship among cortical radiologic changes, the number of early relapses (ERs), and the long-term course of multiple sclerosis (MS).

Methods: In this cohort study, we assessed the number of cortical lesions (CLs) and white matter (WM) lesions and the cortical thickness (Cth) at clinical onset and after 7.9 mean years among 219 patients with relapsing remitting (RR) MS with 1 (Low-ER), 2 (Mid-ER), and ≥3 (High-ER) ERs during the first 2 years.

Psychophysical and neuroimaging responses to moving stimuli in a patient with the Riddoch phenomenon due to bilateral visual cortex lesions.

Patients with injury to early visual cortex or its inputs can display the Riddoch phenomenon: preserved awareness for moving but not stationary stimuli. We provide a detailed case report of a patient with the Riddoch phenomenon, MC. MC has extensive bilateral lesions to occipitotemporal cortex that include most early visual cortex and complete blindness in visual field perimetry testing with static targets.

Effectiveness of Renal Denervation in Resistant Hypertension: A Meta-Analysis of 11 Controlled Studies.

Introduction: Early uncontrolled studies reported large blood pressure reductions in subjects with resistant hypertension treated with renal denervation, however these results were not confirmed in several of the latest publications.

Aim: The aim of the current study was to evaluate the effectiveness of RDN in controlled studies comparing RDN to either a sham procedure or to medical therapy.

Method: Only controlled studies were included in the analysis.

Clinical trial cytology: Use of on-site evaluation of small biopsy and FNA samples for clinical trials and biomarker research studies.

Background: After increased requests for biopsies for clinical trials and biomarker research, the University of Pittsburgh Medical Center created a clinical trial research service that partnered pathology, radiology, and medicine to facilitate rapid on-site evaluation (ROSE) of fine-needle aspiration (FNA) and/or core needle biopsy (CNB) samples to confirm the presence of tumor in these studies.

Methods: Clinical trial coordinators organized biopsies for patients needing tumor samples for trials, and informed the cytopathology and radiology team. ROSE was performed to confirm the presence of sufficient tumor in FNA specimens and/or touch preparations of CNB.

Association of prolonged QTc interval with Takotsubo cardiomyopathy: A neurocardiac syndrome inside the mystery of the insula of Reil.

The Takotsubo cardiomyopathy is often considered autochthonous to the heart, although the primary problem may be not in the heart muscle itself. Instead, similar to several Takotsubo-like cardiac pathologies seen in acute neurological diseases, it may reflect the capacity of the nervous system to injure the heart. Persuasive evidence exists that shocking emotional stress promotes direct heart injuries.

Humoral immunity response to human endogenous retroviruses K/W differentiates between amyotrophic lateral sclerosis and other neurological diseases.

Background And Purpose: Human endogenous retroviruses (HERV) K/W seem to play a role in fostering and exacerbation of some neurological diseases, including amyotrophic lateral sclerosis (ALS). Given these findings, the immunity response against HERV-K and HERV-W envelope surface (env-su) glycoprotein antigens in serum and cerebrospinal fluid (CSF) was investigated for ALS, multiple sclerosis (MS) and Alzheimer's disease patients and in healthy controls.

Methods: Four antigenic peptides derived respectively from HERV-K and HERV-W env-su proteins were studied in 21 definite or probable ALS patients, 26 possible or definite relapsing-remitting MS patients, 18 patients with Alzheimer's disease and 39 healthy controls.

Cytomorphology and sonographic features of ectopic thymic tissue diagnosed in paediatric FNA biopsies.

Introduction: Ectopic thymic tissue can arise as an asymptomatic neck mass, which may be detected on imaging studies. The aim of this study was to determine the incidence of ectopic thymic tissue in paediatric FNAs and to the correlate clinical, radiological and cytomorphological findings.

Methods: FNAs in children with neck and mediastinal lesions performed between January 2012 and July 2016 were reviewed for cases of ectopic thymus.

Mycobacterium avium subspecies paratuberculosis and myelin basic protein specific epitopes are highly recognized by sera from patients with Neuromyelitis optica spectrum disorder.

Epstein-Barr virus (EBV) is the main environmental agent associated to neuromyelitis optica spectrum disorder (NMOSD). Following to studies reporting an increased prevalence of antibodies against peptides derived from Mycobacterium avium subsp. paratuberculosis (MAP) homologous to EBV and human epitopes (MBP, IRF5) in multiple sclerosis (MS), we investigated whether seroreactivity to these antigens display a NMOSD-specific pattern.

Inflammatory intrathecal profiles and cortical damage in multiple sclerosis.

Objective: Gray matter (GM) damage and meningeal inflammation have been associated with early disease onset and a more aggressive disease course in multiple sclerosis (MS), but can these changes be identified in the patient early in the disease course?

Methods: To identify possible biomarkers linking meningeal inflammation, GM damage, and disease severity, gene and protein expression were analyzed in meninges and cerebrospinal fluid (CSF) from 27 postmortem secondary progressive MS and 14 control cases. Combined cytokine/chemokine CSF profiling and 3T magnetic resonance imaging (MRI) were performed at diagnosis in 2 independent cohorts of MS patients (35 and 38 subjects) and in 26 non-MS patients.

Results: Increased expression of proinflammatory cytokines (IFNγ, TNF, IL2, and IL22) and molecules related to sustained B-cell activity and lymphoid-neogenesis (CXCL13, CXCL10, LTα, IL6, and IL10) was detected in the meninges and CSF of postmortem MS cases with high levels of meningeal inflammation and GM demyelination.

Neural substrates for allocentric-to-egocentric conversion of remembered reach targets in humans.

Targets for goal-directed action can be encoded in allocentric coordinates (relative to another visual landmark), but it is not known how these are converted into egocentric commands for action. Here, we investigated this using a slow event-related fMRI paradigm, based on our previous behavioural finding that the allocentric-to-egocentric (Allo-Ego) conversion for reach is performed at the first possible opportunity. Participants were asked to remember (and eventually reach towards) the location of a briefly presented target relative to another visual landmark.

Paradigm Shift for the Surgical Management of Calcaneal Fractures?

Calcaneal fractures account for up to 75% of all foot fractures and 1% to 2% of all fractures. Approximately 75% of calcaneal fractures are intraarticular, resulting in a prolonged recovery, more pain, and disability. The most common mechanism of injury includes falls from a height and motor vehicle accidents.

Is food protein induced enterocolitis syndrome only a non IgE-mediated food allergy?

Food protein induced enterocolitis syndrome (FPIES) is classified as non-IgE-mediated or cell-mediated food allergy, although there is an atypical phenotype so defined for the presence of specific IgEs. All diagnostic criteria for FPIES include the absence of skin or respiratory symptoms of IgE-mediated type. We present four cases that suggest that specific IgEs may have a pathogenic role, resulting in the existence of different FPIES phenotypes.

Diagnostic criteria for acute food protein-induced enterocolitis syndrome. Is the work in progress?

Food protein-induced enterocolitis syndrome (FPIES) is a non IgE-mediated gastrointestinal food allergic disorder. Some diagnostic criteria have been published for acute FPIES. Of course, they are not all the same, so the clinician must choose which ones to adopt for his/her clinical practice.

Lithium Inhibits GSK3β and Augments GluN2A Receptor Expression in the Prefrontal Cortex.

Glycogen synthase kinase 3β (GSK3β) is a highly conserved serine/threonine kinase that has been implicated in both psychiatric and neurodegenerative diseases including schizophrenia, bipolar disorder, and Alzheimer's disease; therefore regulating its activity has become an important strategy for treatment of cognitive impairments in these disorders. This study examines the effects of lithium on GSK3β and its interaction with β-catenin and NMDA receptors within the prefrontal cortex. Lithium, a clinically relevant drug commonly prescribed as a mood stabilizer for psychiatric disorders, significantly increased levels of phosphorylated GSK3β serine 9, an inhibitory phosphorylation site, and decreased β-catenin ser33/37/thr41 phosphorylation , indicating GSK3β inhibition and reduced β-catenin degradation.

Post-traumatic taste disorders: a case series.

Since 1800s there are reports of post-traumatic anosmia, but few studies investigated post-traumatic gustatory deficit and adopted validated evaluation tests. Peripheral and/or central mechanisms may be involved in the genesis of post-traumatic gustatory dysfunction. Beyond a reduction/loss (hypogeusia/ageusia) of gustatory function following a trauma, qualitative taste changes (dysgeusia) may occur.

Loss of tolerance for fishes previously tolerated in children with fish food protein induced enterocolitis syndrome.

We describe two case reports presenting some novel information on fish FPIES. Fish FPIES to one fish does not always start at the same time to other fish. Additionally, development of tolerance to the index fish do not necessarily imply tolerance to other reactive fish.

Utility of The Paris System for Reporting Urinary Cytology in upper urinary tract specimens.

Introduction: Diagnosing upper urinary tract (UUT) lesions using cytology has been historically difficult because of a lack of standardized terminology, cytomorphologic criteria, and the presence of instrumentation artifact. The goal of The Paris System for Reporting Urinary Cytology (TPSRUC) was to provide standardized terminology and cytomorphologic criteria. The aim of this study was to evaluate the utility of TPSRUC in UUT cytology specimens at our institution.

Unravelling the specificity and mechanism of sialic acid recognition by the gut symbiont Ruminococcus gnavus.

Ruminococcus gnavus is a human gut symbiont wherein the ability to degrade mucins is mediated by an intramolecular trans-sialidase (RgNanH). RgNanH comprises a GH33 catalytic domain and a sialic acid-binding carbohydrate-binding module (CBM40). Here we used glycan arrays, STD NMR, X-ray crystallography, mutagenesis and binding assays to determine the structure and function of RgNanH_CBM40 (RgCBM40).

Clinical Neuropathology image 1-2018: Golgi silver staining, the black reaction.

No Abstract available.

Recent Advances in the Diagnosis of Malignant Mesothelioma: Focus on Approach in Challenging Cases and in Limited Tissue and Cytologic Samples.

Mesothelial proliferations can be diagnostically challenging in small specimens, such as body fluid cytology and small tissue biopsies. A great morphologic challenge for pathologists is the separation of benign reactive mesothelial proliferations from malignant mesotheliomas. Reactive mesothelial proliferations may have histologic features that resemble malignancy including increased cellularity, cytologic atypia, and mitoses.

Serum Neurofilament Light Chain in NMOSD and Related Disorders: Comparison According to Aquaporin-4 and Myelin Oligodendrocyte Glycoprotein Antibodies Status.

Background: Neurofilament light chain (NF-L) levels reflect axonal damage in different conditions, including demyelinating disorders.

Objectives: We aimed to compare serum NF-L levels in patients with aquaporin-4 antibodies (AQP4-Ab), myelin oligodendrocyte antibodies (MOG-Ab) and seronegative cases with neuromyelitis optica spectrum disorders and related disorders.

Methods: We analysed AQP4-Ab and MOG-Ab with cell-based assay and NF-L with ultrasensitive electrochemiluminescence immunoassay.