Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%) and the identification of several disease-linked genes, the etiology in most patients remains elusive. Moreover, understanding the correlations between clinical manifestation and genetic variants has become increasingly complex.

Occurrence and Case Fatality Rate of Invasive Aspergillosis in Children With Acute Leukemia: A Systematic Review and Meta-analysis.

Invasive aspergillosis (IA) is a potentially life-threatening complication of childhood acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). We conducted a systematic review and meta-analyses of studies on acute leukemia in children aged 0-17 years since 2000. Findings were reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement.

Data accuracy, consistency and completeness of the national Swiss cystic fibrosis patient registry: Lessons from an ECFSPR data quality project.

Background: Good data quality is essential when rare disease registries are used as a data source for pharmacovigilance studies. This study investigated data quality of the Swiss cystic fibrosis (CF) registry in the frame of a European Cystic Fibrosis Society Patient Registry (ECFSPR) project aiming to implement measures to increase data reliability for registry-based research.

Methods: All 20 pediatric and adult Swiss CF centers participated in a data quality audit between 2018 and 2020, and in a re-audit in 2022.

Bovine colostrum as a fortifier to human milk in very preterm infants - A randomized controlled trial (FortiColos).

Background: Human milk for very preterm infants need fortification for optimal growth and development but the optimal fortification product remains to be identified.

Aims: To investigate feasibility, safety and preliminary efficacy on growth and blood biochemistry when using intact bovine colostrum (BC) as a fortifier to human milk in very preterm infants.

Methods: In an open-label, multicenter, randomized controlled pilot trial (infants 26-31 weeks' gestation), mother's own milk or donor human milk was fortified with powdered BC (n = 115) or a conventional fortifier (CF, bovine-milk-based, n = 117) until 35 weeks' postmenstrual age.

Visuospatial Deficits Are Associated with Pisa Syndrome and not Camptocormia in Parkinson's Disease.

Background: Pisa syndrome (PS) and camptocormia (CC) are postural abnormalities frequently associated with Parkinson's disease (PD). Their pathophysiology remains unclear, but the role of cognitive deficits has been postulated.

Objectives: To identify differences in the neuropsychological functioning of patients with PD with PS or CC compared with matched patients with PD without postural abnormalities.

PET/CT imaging detects intestinal inflammation in a mouse model of doxorubicin-induced mucositis.

Introduction: A severe side effect of cancer chemotherapy is the development of gastrointestinal mucositis, characterised by mucosal inflammation. We investigated if 2-deoxy-2-[F] fluoro-D-glucose positron emission tomography combined with computed tomography (2-[F]FDG-PET/CT) could visualise gastrointestinal mucositis in mice treated with the chemotherapeutic agent doxorubicin.

Methods: In this study, gastrointestinal inflammation was longitudinally evaluated by 2-[F]FDG-PET/CT scans before and 1, 3, 6, and 10 days after treatment with doxorubicin.

Personality, self-esteem, familiarity, and mental health stigmatization: a cross-sectional vignette-based study.

There has been little research exploring the relationship between personality traits, self-esteem, and stigmatizing attitudes toward those with mental disorders. Furthermore, the mechanisms through which the beholder's personality influence mental illness stigma have not been tested. The aim of this study is to examine the relationship between Big Five personality traits, self-esteem, familiarity, being a healthcare professional, and stigmatization.

Peptidoglycan Recognition Peptide 2 Aggravates Weight Loss in a Murine Model of Chemotherapy-Induced Gastrointestinal Toxicity.

Chemotherapy-induced gastrointestinal toxicity (CIGT) is a frequent, severe and dose-limiting side effect. Few treatments have proven effective for CIGT. CIGT is characterized by activation of the nuclear factor kappa B pathway which, leads to upregulation of proinflammatory cytokines.

FIBCD1 ameliorates weight loss in chemotherapy-induced murine mucositis.

Purpose: Chemotherapy-induced gastrointestinal toxicity is a common adverse event during chemotherapeutic treatment. No uniformly applicable strategies exist to predict, prevent, or treat gastrointestinal toxicity. Thus, a goal of mucositis research is to identify targets for therapeutic interventions and individualized risk prediction.

Argon reduces the pulmonary vascular tone in rats and humans by GABA-receptor activation.

Argon exerts neuroprotection. Thus, it might improve patients' neurological outcome after cerebral disorders or cardiopulmonary resuscitation. However, limited data are available concerning its effect on pulmonary vessel and airways.

Colonic Epithelial Surfactant Protein D Expression Correlates with Inflammation in Clinical Colonic Inflammatory Bowel Disease.

Background: Inflammatory bowel diseases (IBD) are chronic disorders of the gastrointestinal tract. Surfactant protein D (SP-D) is expressed in the intestinal epithelium and is essential for innate host defense and regulation of inflammatory responses. Genetic variations of SP-D are associated with IBD, but the effects of SP-D in clinical disease development have not been clarified.

Multifocal epilepsy in children is associated with increased long-distance functional connectivity: An explorative EEG-fMRI study.

Objective: Multifocal epileptic activity is an unfavourable feature of a number of epileptic syndromes (Lennox-Gastaut syndrome, West syndrome, severe focal epilepsies) which suggests an overall vulnerability of the brain to pathological synchronization. However, the mechanisms of multifocal activity are insufficiently understood. This explorative study investigates whether pathological connectivity within brain areas of the default mode network as well as thalamus, brainstem and retrosplenial cortex may predispose individuals to multifocal epileptic activity.

Correction to: Sub-anesthetic Xenon Increases Erythropoietin Levels in Humans: A Randomized Controlled Trial.

Page 1764, Column 2, `Acknowledgements' section: The first sentence, which previously read.

Inhaled dry powder mannitol in children with cystic fibrosis: A randomised efficacy and safety trial.

Introduction: Inhaled mannitol has beneficial effects on lung function, mucociliary clearance, quality of life and sputum properties. This trial examined the efficacy of inhaled mannitol in children with cystic fibrosis (CF).

Methods: The efficacy of inhaled mannitol in children with CF aged 6-17years was assessed in a phase 2, randomised, placebo-controlled crossover study.

Phage-mediated horizontal gene transfer of both prophage and heterologous DNA by ϕBB-1, a bacteriophage of Borrelia burgdorferi.

Horizontal gene transfer (HGT) in Borrelia burgdorferi, the Lyme disease agent, is likely mediated by bacteriophage. Studies of the B. burgdorferi phage, ϕBB-1 and its role in HGT have been hindered by the lack of an assay for readily characterizing phage-mediated DNA movement (transduction).

Development and validation of a computer-based situational judgement test to assess medical students' communication skills in the field of shared decision making.

Objective: To develop a computer-based test (CBT) measuring medical students' communication skills in the field of shared decision making (SDM) and to evaluate its construct validity.

Methods: The CBT was developed in the context of an experimental study comparing three different trainings for SDM (including e-learning and/or role-play) and a control group. Assessment included a CBT (Part A: seven context-poor questions, Part B: 15 context-rich questions) and interviews with two simulated patients (SP-assessment).

Sepsis 2016 Agra, India. Agra, India. 5-6 February 2016.

P1 D-Dimer in adult patients with presumed sepsis and their clinical outcomes Surinder Kumar Sharma, Anurag Rohatgi, Mansi Bajaj P2 Diagnosis of infection utilizing Acellix CD64 Charles L. Sprung, Ricardo Calderon Morales, Harvey Kasdan, Allon Reiter, Tobias Volker, Julien Meissonnier P3 High levels of phenylcarboxylic acids reflect the severity in ICU patients and affect phagocytic activity of neutrophils Natalia Beloborodova, Viktor Moroz, Aleksandra Bedova, Yulia Sarshor, Artem Osipov, Katerina Chernevskaya P4 The role of bacterial phenolic metabolites in mitochondrial dysfunction Nadezhda Fedotcheva, Ekaterina Chernevskaya, Natalia Beloborodova P5 The early diagnosis of severe sepsis and judgment of rapid transport to critical care center: better prognostic factor Hisashi Imahase, Kosuke C Yamada, Yuichiro Sakamoto, Miho Ohta, Ryota Sakurai, Mayuko Yahata, Mitsuru Umeka, Toru Miike, Hiroyuki Koami, Futoshi Nagashima, Takashi Iwamura, Satoshi Inoue P6 Translational neuromodulation of the immune system Zhifeng Li, Dennis Grech, Patrick Morcillo, Alex Bekker, Luis Ulloa P7 Pathway-level meta-analysis reveals transcriptional signature of septic shock Samanwoy Mukhopadhyay, Abhay D Pandey, Samsiddhi Bhattacharjee, Saroj K Mohapatra P8 Antibiotic dosing in septic patients on the critical care unit - a literature review Julie K Wilson P9 Pandemic of clone O25: H4-ST131 producing CTX-M-15 extended spectrum- β- lactamase- as serious cause of multidrug resistance extraintestinal pathogenic infections in India Savita Jadhav, Rabindra Nath Misra, Nageswari Gandham, Kalpana Angadi, Chanda Vywahare, Neetu Gupta, Deepali Desai P10 Detection and characterization of meningitis using a DDA-based mass spectrometry approach Anahita Bakochi, Tirthankar Mohanty, Adam Linder, Johan Malmström P11 Diagnostic usefulness of lipid profile and procalcitonin in sepsis and trauma patients Dimple Anand, Seema Bhargava, Lalit Mohan Srivastava, Sumit Ray P12 Heparin – a novel therapeutic in sepsis? Jane Fisher, Peter Bentzer, Adam Linder P13 Hypothalamic impairment is associated with vasopressin deficiency during sepsis Luis Henrique Angenendt da Costa, Nilton Nascimentos dos Santos Júnior Carlos Henrique Rocha Catalão, Maria José Alves da Rocha P14 Presepsin (soluble CD14 subtype) is a dependable prognostic marker in critical septic patients Alfredo Focà, Cinzia Peronace, Giovanni Matera, Aida Giancotti, Giorgio Settimo Barreca, Angela Quirino, Maria Teresa Loria, Pio Settembre, Maria Carla Liberto, Bruno Amantea P15 Safety and efficacy of gelatin-containing solutions versus crystalloids and albumin - a systematic review with quantitative and qualitative summaries Christiane Hartog, Christiane Hartog, Claudia Moeller, Carolin Fleischmann, Daniel Thomas-Rueddel, Vlasislav Vlasakov, Bram Rochwerg, Philip Theurer, Konrad Reinhart P16 Immunomodulatory properties of peripheral blood mesenchymal stem cells following endotoxin stimulation in an equine model Anna E. Smith, Sandra D.

Sub-anesthetic Xenon Increases Erythropoietin Levels in Humans: A Randomized Controlled Trial.

Background: The licensed anesthetic xenon, which exerts organ protective properties, was recently added by the World Anti-Doping Agency to the list of prohibited substances. Xenon is supposed to trigger the production of hypoxia-inducible factor 1α (HIF-1α) and subsequently erythropoietin, but data are limited to in vivo experimental work. Therefore we evaluated the effect of xenon on erythropoietin levels in healthy persons.

Measurement of differential cross sections for Higgs boson production in the diphoton decay channel in pp collisions at [Formula: see text].

A measurement is presented of differential cross sections for Higgs boson (H) production in pp collisions at [Formula: see text][Formula: see text]. The analysis exploits the [Formula: see text] decay in data corresponding to an integrated luminosity of 19.7[Formula: see text] collected by the CMS experiment at the LHC.

Study of B Meson Production in p+Pb Collisions at √[S(NN)]=5.02 TeV Using Exclusive Hadronic Decays.

The production cross sections of the B^{+}, B^{0}, and B_{s}^{0} mesons, and of their charge conjugates, are measured via exclusive hadronic decays in p+Pb collisions at the center-of-mass energy sqrt[s_{NN}]=5.02  TeV with the CMS detector at the CERN LHC. The data set used for this analysis corresponds to an integrated luminosity of 34.

Measurement of the [Formula: see text] cross section in pp collisions at [Formula: see text] TeVand limits on anomalous gauge couplings.

A measurement of the W boson pair production cross section in proton-proton collisions at [Formula: see text] TeV is presented. The data collected with the CMS detector at the LHC correspond to an integrated luminosity of 19.4[Formula: see text].

Combined Measurement of the Higgs Boson Mass in pp Collisions at sqrt[s]=7 and 8 TeV with the ATLAS and CMS Experiments.

A measurement of the Higgs boson mass is presented based on the combined data samples of the ATLAS and CMS experiments at the CERN LHC in the H→γγ and H→ZZ→4ℓ decay channels. The results are obtained from a simultaneous fit to the reconstructed invariant mass peaks in the two channels and for the two experiments. The measured masses from the individual channels and the two experiments are found to be consistent among themselves.

Neuronal Networks during Burst Suppression as Revealed by Source Analysis.

Introduction: Burst-suppression (BS) is an electroencephalography (EEG) pattern consisting of alternant periods of slow waves of high amplitude (burst) and periods of so called flat EEG (suppression). It is generally associated with coma of various etiologies (hypoxia, drug-related intoxication, hypothermia, and childhood encephalopathies, but also anesthesia). Animal studies suggest that both the cortex and the thalamus are involved in the generation of BS.

Augmenting anti-cancer natural products with a small molecule adjuvant.

Aquatic microbes produce diverse secondary metabolites with interesting biological activities. Cytotoxic metabolites have the potential to become lead compounds or drugs for cancer treatment. Many cytotoxic compounds, however, show undesirable toxicity at higher concentrations.

Study on the Relationships between Intrinsic Functional Connectivity of the Default Mode Network and Transient Epileptic Activity.

Rationale: Simultaneous recording of electroencephalogram and functional MRI (EEG-fMRI) is a powerful tool for localizing epileptic networks via the detection of hemodynamic changes correlated with interictal epileptic discharges (IEDs). fMRI can be used to study the long-lasting effect of epileptic activity by assessing stationary functional connectivity during the resting-state period [especially, the connectivity of the default mode network (DMN)]. Temporal lobe epilepsy (TLE) and idiopathic generalized epilepsy (IGE) are associated with low responsiveness and disruption of DMN activity.