Emergence agitation in paediatric day case surgery: A randomised, single-blinded study comparing narcotrend and heart rate variability with standard monitoring.

Background: Postoperative emergence agitation remains a significant challenge in paediatric anaesthesia. Although short-lived, it may cause harm to the patient and negative experiences for all. Differentiating agitation, delirium and pain is difficult.

The Use of Tablet Computers to Reduce Preoperative Anxiety in Children Before Anesthesia: A Randomized Controlled Study.

Purpose: Children undergoing surgery and general anesthesia often experience preoperative anxiety (POA) with related negative short-, medium- and long-term consequences. Anxiolytic premedication has negative side effects, and nonpharmacologic interventions are often resource demanding and not always readily available in a busy clinical setting. The use of an age-appropriate game on a tablet computer may reduce POA, postoperative pain, and occurrence of emergence delirium (ED).

Entrapment of drugs in dental calculus - Detection validation based on test results from post-mortem investigations.

For prospective investigation of drugs and metabolites in archaeological and contemporary dental calculus, a sensitive, broadly applicable ultra-high-performance liquid chromatography-tandem mass spectrometry method using pneumatically assisted electrospray ionisation (UHPLC-ESI-MS/MS) was developed. The dental calculus was treated with citric acid and the dissolution extracts were cleaned using weak and strong polymeric cation-exchange sorbents. The method was validated on hydroxyapatite for the analysis of 67 drugs and metabolites.

Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.

Introduction: Next generation sequencing (NGS) with customized gene panels is a helpful tool to identify monogenic epilepsy syndromes. The number of genes tested within a customized panel may vary greatly. The aim of the present study was to compare the diagnostic yield of small (<25 kb) and large (>25 kb) customized epilepsy panels.

Utility of genetic testing for therapeutic decision-making in adults with epilepsy.

Objective: Genetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. In the present study, we sought to investigate a cohort of adult patients with epilepsy, to determinate the diagnostic yield and explore the gain of personalized treatment approaches in adult patients.

Methods: Two hundred patients (age span = 18-80 years) referred for diagnostic gene panel testing at the Danish Epilepsy Center were included.

mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders.

Neuronal migration disorders (NMDs) are a heterogeneous group of conditions caused by the abnormal migration of neuroblasts in the developing brain and nervous system, resulting in severe developmental impairment, intractable epilepsy and intellectual disability (Spalice 2009). To date, many genes have been identified as the leading cause of migration defects, i.e.

Parental mosaicism in epilepsies due to alleged de novo variants.

Severe early onset epilepsies are often caused by de novo pathogenic variants. Few studies have reported the frequency of somatic mosaicism in parents of children with severe epileptic encephalopathies. Here we aim to investigate the frequency of mosaicism in the parents of children with epilepsy caused by alleged de novo variants.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.

Purpose: To provide a detailed electroclinical description and expand the phenotype of PIGT-CDG, to perform genotype-phenotype correlation, and to investigate the onset and severity of the epilepsy associated with the different genetic subtypes of this rare disorder. Furthermore, to use computer-assisted facial gestalt analysis in PIGT-CDG and to the compare findings with other glycosylphosphatidylinositol (GPI) anchor deficiencies.

Methods: We evaluated 13 children from eight unrelated families with homozygous or compound heterozygous pathogenic variants in PIGT.

Mesial Temporal Sclerosis in SCN1A-Related Epilepsy: Two Long-Term EEG Case Studies.

Patients with temporal lobe epilepsy (TLE) due to mesial temporal sclerosis (MTS) are eligible candidates for resective epilepsy surgery. We report on 2 male patients aged 4 years with suspected TLE due to MTS who were referred for presurgical evaluation. Both patients came to medical attention within the first year of life suffering from febrile status epileptici and subsequent unprovoked seizures.

Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families.

The Melanopsin-Mediated Pupillary Light Response Is Not Changed in Patients with Newly Diagnosed Idiopathic Intracranial Hypertension.

Previously, it has been reported that melanopsin-mediated pupillary light response (PLR), measured with pupillometry, is reduced in patients with idiopathic intracranial hypertension (IIH), indicating the clinical utility of the tool in the diagnosis of IIH. In the current study, the authors aimed to measure the PLR in 13 treatment-naive patients with new-onset IIH and 13 healthy controls. In contrast to the previous report, which was based on patients with longstanding IIH ( = 13), the authors found no significant difference in the melanopsin-mediated PLR ( = 0.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Objective: To examine the role of mutations in GABRB3 encoding the β subunit of the GABA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes.

Methods: We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs.

Results: We identified 22 patients with heterozygous mutations in GABRB3, including 3 probands from multiplex families.

Germline and somatic mutations in the gene in focal cortical dysplasia and epilepsy.

Objective: To assess the prevalence of somatic mutations in focal cortical dysplasia (FCD) and of germline mutations in a broad range of epilepsies.

Methods: We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel sequencing. Germline mutations in were assessed in a French research cohort of 93 probands with focal epilepsies and in a diagnostic Danish cohort of 245 patients with a broad range of epilepsies.

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Objective: To delineate phenotypic heterogeneity, we describe the clinical features of a cohort of patients with GABRA1 gene mutations.

Methods: Patients with GABRA1 mutations were ascertained through an international collaboration. Clinical, EEG, and genetic data were collected.

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Objective: Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia (PKD), and their combination-known as infantile convulsions and paroxysmal choreoathetosis (ICCA)-are related autosomal dominant diseases. PRRT2 (proline-rich transmembrane protein 2 gene) has been identified as the major gene in all 3 conditions, found to be mutated in 80 to 90% of familial and 30 to 35% of sporadic cases.

Methods: We searched for the genetic defect in PRRT2-negative, unrelated families with BFIS or ICCA using whole exome or targeted gene panel sequencing, and performed a detailed cliniconeurophysiological workup.

[Fatal course following poisoning with an illegal weight-reducing agent].

DNP is a weight-reducing agent, which has been revived through sale over the Internet. DNP uncouples the oxidative phosphorylation in cells, leading to an excessive production of heat. A 39-year-old male ingested four grams of DNP and developed severe muscular stiffness and eventually cardiac arrest.

Effectiveness and drug adherence of biologic monotherapy in routine care of patients with rheumatoid arthritis: a cohort study of patients registered in the Danish biologics registry.

Objectives: To estimate the prevalence of Danish RA patients currently on biologic monotherapy and compare the effectiveness and drug adherence of biologic therapies applied as monotherapy.

Methods: All RA patients registered in the Danish biologics database (DANBIO) as receiving biologic DMARD (bDMARD) treatment as monotherapy without concomitant conventional synthetic DMARDs (csDMARDs) during the study period 1 May, 2011 through 30 April 2013 were eligible for inclusion. All patient files were checked to ensure that they were in accordance with the treatment registration in DANBIO.

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI.

Clinical Phenotype of De Novo Mutation: Case Report and Review of Literature.

Mutations in the guanine nucleotide-binding protein (G protein), α activating activity polypeptide O () gene have recently been described in 6 patients with early infantile epileptic encephalopathies. In the present study, we report the phenotype and the clinical course of a 4-year-old female with an epileptic encephalopathy (Ohtahara syndrome) and profound intellectual disability due to a de novo mutation (c.692A>G; p.

Evaluation of a controlled, national collaboration study on a clinical pharmacy service of screening for risk medications.

Background: Risk medications are frequently associated with adverse events and hospitalisations.

Objective: To evaluate a risk medication screening service for in-patients at Danish hospitals.

Setting: Danish hospitals.

Influence of levamisole and other angiogenesis inhibitors on angiogenesis and endothelial cell morphology in vitro.

Angiogenesis, the formation of new blood vessels from existing vessels is required for many physiological processes and for growth of solid tumors. Initiated by hypoxia, angiogenesis involves binding of angiogenic factors to endothelial cell (EC) receptors and activation of cellular signaling, differentiation, migration, proliferation, interconnection and canalization of ECs, remodeling of the extracellular matrix and stabilization of newly formed vessels. Experimentally, these processes can be studied by several in vitro and in vivo assays focusing on different steps in the process.

Basilar Artery Thrombosis in a Child Treated With Intravenous Tissue Plasminogen Activator and Endovascular Mechanical Thrombectomy.

Basilar artery occlusion in children is rare. It has a high mortality and morbidity if recanalization is not achieved before extensive brainstem infarction has occurred. An 11-year-old boy presented with a clinical and radiological "top-of-the-basilar" syndrome.