Brain glucose uptake during transcranial direct current stimulation measured with functional [F]FDG-PET.

Previous evidence indicates that transcranial direct stimulation (tDCS) is a neuromodulatory brain stimulation technique. Easy applicability, low side-effects and negligible costs facilitated its wide-spread application in efforts to modulate brain function, however neuronal mechanisms of tDCS are insufficiently understood. Hence, we investigated the immediate impact of tDCS on the brain's glucose consumption in a continuous infusion protocol with the radioligand 2-[F]fluoro-2-deoxy-D-glucose ([F]FDG) and positron emission tomography (PET).

Correction: Epistasis of HTR1A and BDNF risk genes alters cortical 5-HT1A receptor binding: PET results link genotype to molecular phenotype in depression.

In the original Article, co-author Professor Andreas Hahn was not included in the author list. This has been corrected in the XML, PDF and HTML versions of this Article.

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

TRAPPC11 was identified as a component of the TRAPP III complex that functions in membrane trafficking and autophagy. Variants in TRAPPC11 have been reported to be associated with a broad spectrum of phenotypes but all affected individuals display muscular pathology. Identifying additional variants will further our understanding of the clinical spectrum of phenotypes and will reveal regions of the protein critical for its functions.

Predicting Ventral Striatal Activation During Reward Anticipation From Functional Connectivity at Rest.

Reward anticipation is essential for directing behavior toward positively valenced stimuli, creating motivational salience. Task-related activation of the ventral striatum (VS) has long been used as a target for understanding reward function. However, some subjects may not be able to perform the respective tasks because of their complexity or subjects' physical or mental disabilities.

Benefits of the Genium microprocessor controlled prosthetic knee on ambulation, mobility, activities of daily living and quality of life: a systematic literature review.

Purpose: The benefits of advanced hydraulic microprocessor controlled knee (MPK) joints have been well established and repeatedly confirmed. The Genium knee was introduced in 2011 containing an enhanced control concept including additional sensors and improved algorithms enabling a range of new functions for transfemoral amputees (TFAs). A systematic review was conducted to evaluate the effect of the Genium knee on ambulation, mobility, activities of daily living (ADLs) and quality of life compared to standard MPKs.

Exercise-Induced Oxidative Stress, Nitric Oxide and Plasma Amino Acid Profile in Recreational Runners with Vegetarian and Non-Vegetarian Dietary Patterns.

This study investigated the exercise-induced changes in oxidative stress, nitric oxide (NO) metabolism and amino acid profile in plasma of omnivorous (OMN, = 25), lacto-ovo-vegetarian (LOV, = 25) and vegan (VEG, = 23) recreational runners. Oxidative stress was measured as malondialdehyde (MDA), NO as nitrite and nitrate, and various amino acids, including homoarginine and guanidinoacetate, the precursor of creatine. All analytes were measured by validated stable-isotope dilution gas chromatographic-mass spectrometric methods.

Long-term outcome and unmet needs in infantile-onset Pompe disease.

Infantile-onset Pompe disease (IOPD) is characterized by virtually complete absence of acid alpha-glucosidase (GAA)-activity, resulting in rapidly progressive hypertrophic cardiomyopathy (HCM), profound skeletal muscle weakness, and death usually within the first 12 months of life. Enzyme replacement therapy (ERT) with recombinant GAA in humans started in 1999, and pivotal studies demonstrated that the treatment ameliorated HCM, improved motor function in some patients, and prolonged overall and ventilator-free survival. These outcomes led to the approval of ERT in 2006.

Association between dynamic resting-state functional connectivity and ketamine plasma levels in visual processing networks.

Numerous studies demonstrate ketamine's influence on resting-state functional connectivity (rsFC). Seed-based and static rsFC estimation methods may oversimplify FC. These limitations can be addressed with whole-brain, dynamic rsFC estimation methods.

Promise of Fully Integrated PET/MRI: Noninvasive Clinical Quantification of Cerebral Glucose Metabolism.

We describe a fully automated processing pipeline to support the noninvasive absolute quantification of the cerebral metabolic rate for glucose (CMRGlc) in a clinical setting. This pipeline takes advantage of "anatometabolic" information associated with fully integrated PET/MRI. Ten healthy volunteers (5 men and /5 women; 27 ± 7 y old; 70 ± 10 kg) underwent a test-retest F-FDG PET/MRI examination of the brain.

Comparison of screening tests without a gold standard-A pragmatic approach with virtual reference testing.

Well-defined diagnostic gold standards are rarely available for the diagnosis of rare diseases such as some tropical infections. Algorithms for reliable test evaluation without gold standard are therefore desirable. On the basis of previous work of Gart and Buck (1966); Rogan and Gladen (1978), and Hui and Walter (1980), a modeling approach for the comparison of diagnostic tests without a gold standard - and thus without reliably characterized reference sample material - is established especially for situations not fulfilling the requirement of conditional independence of the diagnostic tests evaluated.

Serotonin Transporter Binding in the Human Brain After Pharmacological Challenge Measured Using PET and PET/MR.

quantification of the serotonin transporter (SERT) guided our understanding of many neuropsychiatric disorders. A recently introduced bolus plus constant infusion protocol has been shown to allow the reliable determination of SERT binding with reduced scan time. In this work, the outcomes of two methods, a bolus injection paradigm on a GE PET camera, and a bolus plus infusion paradigm on a combined Siemens PET/MR camera were compared.

[Non-ambulatory patients with Duchenne muscular dystrophy : Recommendations for monitoring disease progression and course of treatment].

Background: Duchenne muscular dystrophy (DMD) is a severe X‑linked recessive neuromuscular disorder. In children without corticosteroid therapy, progressive muscular weakness is associated with loss of ambulation on average by the age of 9.5 years.

Magnesium Bioavailability and Tolerability Do Not Differ between Two Supplements with Different Release Properties.

Magnesium (Mg) is one of the most frequently supplemented micronutrients. Due to possible gastrointestinal side effects, the European Food Safety Authority and the Institute of Medicine set the upper intake level for Mg from supplements to 250 and 350 mg, respectively. Nevertheless, systematic data concerning the tolerability of Mg supplements are scarce.

Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome.

Background: More than 90% of individuals with Noonan syndrome (NS) with mutations clustered in the CR2 domain of RAF1 present with severe and often lethal hypertrophic cardiomyopathy (HCM). The signaling pathways by which NS RAF1 mutations promote HCM remain elusive, and so far, there is no known treatment for NS-associated HCM.

Methods: We used patient-derived RAF1 and CRISPR-Cas9-generated isogenic control inducible pluripotent stem cell (iPSC)-derived cardiomyocytes to model NS RAF1-associated HCM and to further delineate the molecular mechanisms underlying the disease.

Neurodevelopmental outcome in hypoplastic left heart syndrome after hybrid procedure.

Background: Little is known about the mid-term outcome and brain development in patients following the hybrid approach for hypoplastic left heart syndrome (HLHS). This study investigates neurodevelopmental outcome, quality of life (QoL) and brain MRI findings in HLHS preschoolers treated with the hybrid approach.

Methods: Twenty HLHS patients (60% males) have been examined after neonatal hybrid Stage I and comprehensive stage II operation at the Pediatric Heart Center Giessen, Germany, between 2012 and 2016.

Encephalopathy Associated With Neurochondrin Autoantibodies.

We determined the prevalence of autoantibodies against an extended number of established and novel neural antigens in children and adolescents with suspected autoimmune encephalitis, epilepsy, single seizures, or marked epileptiform activity in electroencephalography (EEG). Prospectively, 103 patients were recruited aged between 0 and 18 years and 104 controls. A panel of 35 autoantibodies against neural cell-surface and intracellular antigens was screened.

Micronutrient Status of Recreational Runners with Vegetarian or Non-Vegetarian Dietary Patterns.

Vegetarian diets have gained popularity in sports. However, few data exist on the status of micronutrients and related biomarkers for vegetarian and vegan athletes. The aim of this cross-sectional study was to compare the micronutrient status of omnivorous (OMN, = 27), lacto-ovo-vegetarian (LOV, = 26), and vegan (VEG, = 28) recreational runners.

Exercise capacity of vegan, lacto-ovo-vegetarian and omnivorous recreational runners.

Background: In search of the right nutrition for the athlete, numerous nutritional strategies and diets were discussed over time. However, the influence of plant-based diets, especially veganism, on exercise capacity has not been clarified.

Methods: We conducted a cross-sectional study to compare the exercise capacity of vegan (VEG, n = 24), lacto-ovo-vegetarian (LOV, n = 26) and omnivorous (OMN, n = 26) recreational runners.

Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years.

Enzyme replacement therapy in infantile onset Pompe disease has led to a new phenotype with features not known in the pre-enzyme replacement therapy era. We investigated the origin of a rapidly emerging and severe weakness of the foot dorsiflexors in a 7-year-old boy after 6.5 years of enzyme replacement therapy.

Modeling the acute pharmacological response to selective serotonin reuptake inhibitors in human brain using simultaneous PET/MR imaging.

Pharmacological imaging of the effects of selective serotonin reuptake inhibitors (SSRI) may aid the clarification of their mechanism of action and influence treatment of highly prevalent neuropsychiatric conditions if the detected effects could be related to patient outcomes. In a randomized double-blind design, 38 healthy participants received a constant infusion of 8 mg citalopram or saline during either their first or second of two PET/MR scans. Resting-state functional MRI (fMRI) was acquired simultaneously with PET data on the binding of serotonin transporters (5-HTT) using [C]DASB.

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.

Background: Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been used to treat TSC-related manifestations in older children and adults. However, data on their safety and efficacy in infants and young children are scarce.

A Systematic Review of the Health Economics of Pompe Disease.

Background: Pompe disease is a rare, severe neuromuscular disease with high mortality and substantial clinical and humanistic burden. However, the economic burden of Pompe disease and the health economic value of its treatments are not well understood. The objectives of this systematic review were to characterize the health economic evidence on Pompe disease, including healthcare resource use and costs (direct and indirect), health utilities, and the cost-effectiveness of current treatments used to manage patients with Pompe disease.

Smaller brain volumes at two years of age in patients with hypoplastic left heart syndrome - Impact of surgical approach.

Background: Brain growth in hypoplastic left heart syndrome (HLHS) is reduced before and after birth. Little is known about further brain growth until two years of age before Fontan procedure and the potential impact of type of surgery.

Methods: In a prospective, two-center study 29 patients with HLHS and variants were treated by Norwood (n = 5) or Hybrid procedure (n = 24).