Recurrent ischemic stroke in an adult with cystinosis: a clinical-pathological case.

A 32-year-old woman with infantile nephropathic cystinosis presented with cystinosis and recurrent ischemic stroke. The neuropathological description demonstrates that recurrent stroke was caused by intracranial stenosis and showed evidence of cystinosis brain involvement. There are few reports of cerebrovascular disease in patients with longstanding nephropathic cystinosis.

Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation.

The clinical phenotype of frontotemporal dementia patients carrying progranulin (GRN) mutations is known to be heterogeneous. We present a patient with corticobasal syndrome and a family with progressive aphasia and behavioral features who were found to have the same p.Gln257Profs*27 mutation.

Fetal-maternal interactions in the synepitheliochorial placenta using the eGFP cloned cattle model.

Background: To investigate mechanisms of fetal-maternal cell interactions in the bovine placenta, we developed a model of transgenic enhanced Green Fluorescent Protein (t-eGFP) expressing bovine embryos produced by nuclear transfer (NT) to assess the distribution of fetal-derived products in the bovine placenta. In addition, we searched for male specific DNA in the blood of females carrying in vitro produced male embryos. Our hypothesis is that the bovine placenta is more permeable to fetal-derived products than described elsewhere.

Thrombocytopenia in Plasmodium vivax malaria is related to platelets phagocytosis.

Background: Although thrombocytopenia is a hematological disorder commonly reported in malarial patients, its mechanisms are still poorly understood, with only a few studies focusing on the role of platelets phagocytosis.

Methods And Findings: Thirty-five malaria vivax patients and eight healthy volunteers (HV) were enrolled in the study. Among vivax malaria patients, thrombocytopenia (<150,000 platelets/µL) was found in 62.

Anti-inflammatory/regulatory cytokine microenvironment mediated by IL-4 and IL-10 coordinates the immune response in hemophilia A patients infected chronically with hepatitis C virus.

In the past decades patients with hemophilia were infected commonly by hepatitis C virus (HCV) and a significant number of patients are infected chronically. Focusing on the role of the immune system for controlling and or maintaining HCV infection, the leukocyte and cytokine profiles of peripheral blood from hemophilia A patients and other patients with and without HCV infection were studied. The results demonstrated that hemophilia A is characterized by a general state of circulating leukocytes activation along with an overall increase in the frequency of IL-6 and IL-10 with decrease of IL-8 and IL-12.

Heat-mediated enrichment of α-synuclein from cells and tissue for assessing post-translational modifications.

α-Synuclein (α-syn) is the major component of Lewy bodies, a pathological hallmark of Parkinson's disease and other synucleinopathies. The characterization of α-syn post-translational modifications (PTMs), thought to interfere with its aggregation propensity and cellular signaling, has been limited by the availability of extraction methods of endogenous protein from cells and tissues, and by the availability of antibodies toward α-syn PTMs. Here, by taking advantage of α-syn thermostability, we applied a method to achieve high enrichment of soluble α-syn both from cultured cells and brain tissues followed by proteomics analysis.

Breeding of transgenic cattle for human coagulation factor IX by a combination of lentiviral system and cloning.

Recombinant coagulation factor IX must be produced in mammalian cells because FIX synthesis involves translational modifications. Human cell culture-based expression of human coagulation factor IX (hFIX) is expensive, and large-scale production capacity is limited. Transgenic animals may greatly increase the yield of therapeutic proteins and reduce costs.

Amygdalohippocampotomy: surgical technique and clinical results.

Object: The removal of mesial temporal structures, namely amygdalohippocampectomy, is the most efficient surgical procedure for the treatment of epilepsy. However, disconnection of the epileptogenic zones, as in temporal lobotomy or, for different purposes, hemispherotomy, have shown equivalent results with less morbidity. Thus, authors of the present study began performing selective amygdalohippocampotomy in cases of refractory mesial temporal lobe epilepsy (TLE) to treat mesial temporal lobe sclerosis (MTLS).

[Benign fibro-osseous lesions of the craniofacial complex with aneurysmal bone cyst formation].

Aneurysmal bone cyst are controversial osteolytic benign expansive lesions which occur more frequently in the metaphysis of long bones and spine. They are classified as primary or secondary lesions depending on the presence or absence of an associated bone pathology. The engraftment of aneurysmal bone cyst onto benign fibro-osseous lesions is established.

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

We assessed the geographical distribution of C9orf72 G(4) C(2) expansions in a pan-European frontotemporal lobar degeneration (FTLD) cohort (n = 1,205), ascertained by the European Early-Onset Dementia (EOD) consortium. Next, we performed a meta-analysis of our data and that of other European studies, together 2,668 patients from 15 Western European countries. The frequency of the C9orf72 expansions in Western Europe was 9.

Surgical control of limbic encephalitis associated with LGI1 antibodies.

Limbic encephalitis with LGI1 antibodies may cause drug-resistant temporal lobe epilepsy. We report a case of a young man with progressive drug-resistant focal epilepsy, hyperhidrosis, and memory impairment associated with a left mesial temporal lesion. Epilepsy surgery was performed with the provisional diagnosis of cortical dysplasia or tumour.

Using Py-GC/MS to fingerprint additives associated with paper mill effluent toxicity episodes.

Understanding the cause of effluent toxicity is an important requirement for its prevention, remediation and return to compliance. One component of the strategy entails identification and fingerprinting of additives or components in additives that may be the cause of the toxicity episodes. A number of additives used in pulp and papermaking are polymeric compounds that are suspect in effluent toxicity.

An evidence-based systematic review on cognitive interventions for individuals with dementia.

Purpose: To evaluate the current state of research evidence related to cognitive interventions for individuals with Alzheimer's disease or related dementias.

Method: A systematic search of the literature was conducted across 27 electronic databases based on a set of a priori questions, inclusion/exclusion criteria, and search parameters. Studies were appraised for methodological quality and categorized according to intervention technique and outcome (e.

Good interobserver and intraobserver agreement in the evaluation of the new ILAE classification of focal cortical dysplasias.

Purpose: An International League Against Epilepsy (ILAE) consensus classification system for focal cortical dysplasias (FCDs) has been published in 2011 specifying clinicopathologic FCD variants. The aim of the present work was to microscopically assess interobserver agreement and intraobserver reproducibility for FCD categories among an international group of neuropathologists with different levels of experience and access to epilepsy surgery tissue.

Methods: Surgical FCD specimens covering a broad histopathology spectrum were retrieved from 22 patients with epilepsy.

Iron overload in allogeneic hematopoietic stem cell transplant recipients.

Context: Patients who undergo hematopoietic stem cell transplant are at an increased risk of developing iron overload.

Objectives: To describe the effect of hepatic iron overload on hematopoietic stem cell transplant recipients and to validate the utility of histologic scoring system of iron granules in the liver.

Design: Records of 154 post allogeneic hematopoietic stem cell transplant patients were reviewed.

23-year-old man with a superficial cortical brain tumor.

A 23-year-old male presented with a tonic-clonic generalized seizure. Neuroradiological examination revealed a superficial cystic mass with a mural nodule in the right fronto-parietal lobe. Histological and immunohistochemical examination were consistent with a pigmented (melanin producing) desmoplastic ganglioglioma.

Discordant Streptococcus agalactiae (Group B streptococcus) gestational infection in monochorionic/diamniotic and dichorionic/diamniotic twins.

Infection due to Streptococcus agalactiae or Group B streptococcus may be acquired during parturition or gestation. Discordant twin gestational Group B streptococcus infections are rarely reported. We describe two cases of fatal discordant gestational Group B streptococcus infection in both a monochorionic/diamniotic pregnancy and in a dichorionic/diamniotic pregnancy.

Augmented renal clearance in septic patients and implications for vancomycin optimisation.

The aim of this study was to evaluate the effect of augmented renal clearance (ARC) on vancomycin serum concentrations in critically ill patients. This prospective, single-centre, observational, cohort study included 93 consecutive, critically ill septic patients who started treatment that included vancomycin by continuous infusion, admitted over a 2-year period (March 2006 to February 2008). ARC was defined as 24-h creatinine clearance (CL(Cr))>130 mL/min/1.

B-type natriuretic peptide predicts long-term prognosis in a cohort of critically ill patients.

B-type natriuretic peptide is an important prognostic marker in heart failure. However, there are limited data for its value in non-cardiac intensive care unit patients, namely regarding long-term prognosis. We investigated the long-term prognostic value of BNP in a cohort of critically ill patients.

Antiepileptic drugs management and long-term seizure outcome in post surgical mesial temporal lobe epilepsy with hippocampal sclerosis.

Surgery is the treatment of choice for refractory temporal lobe epilepsies, but unexpected seizure recurrences occur and the AEDs management strategy may be an implicated factor. We evaluated the AEDs management's role in the outcome of post surgical epilepsy patients with hippocampal sclerosis (HS). Epileptic patients submitted to amigdalohippocampectomy due to HS in Engel class IA 12 months after surgery were selected.

Sarcoma with true epithelial differentiation secondary to irradiated glioblastoma.

Glioblastoma multiforme rarely shows true, immunohistochemically confirmed, epithelial differentiation. Furthermore, radiotherapy may induce cerebral sarcomatous tumors, and postsurgery glioblastoma irradiation may give rise to secondary gliosarcomas. We report a case of a 48-year-old male operated on a primary glioblastoma, followed by radiotherapy.

A segmentation algorithm for automated tracking of fast swimming unlabelled cells in three dimensions.

Recent advances in microscopy and cytolabelling methods enable the real time imaging of cells as they move and interact in their real physiological environment. Scenarios in which multiple cells move autonomously in all directions are not uncommon in biology. A remarkable example is the swimming of marine spermatozoa in search of the conspecific oocyte.

Naproxen-induced liver injury.

Background: Nonsteroidal anti-inflammatory drugs (NSAIDs) have been reported to induce liver injury. Patterns of the injury usually range from mild elevations of liver enzymes to sometimes severe fulminant hepatic failure. Likewise, naproxen is a propionic acid derivative NSAID that was introduced in 1980 and has been available as an over-the-counter medication since 1994, but has rarely been reported to cause liver injury.

Rapidly progressive corticobasal degeneration syndrome.

Introduction: Corticobasal syndrome (CBS) has a heterogeneous clinical presentation with no specific pathologic substratum. Its accurate diagnosis is a challenge for neurologists; in order to establish CBS definitively, postmortem confirmation is required. Some clinical and radiological features can help to distinguish it from other neurodegenerative conditions, such as Creutzfeldt-Jakob disease (CJD).