Metabolic trajectories of diabetic ketoacidosis onset described by breath analysis.

Purpose: This feasibility study aimed to investigate the use of exhaled breath analysis to capture and quantify relative changes of metabolites during resolution of acute diabetic ketoacidosis under insulin and rehydration therapy.

Methods: Breath analysis was conducted on 30 patients of which 5 with DKA. They inflated Nalophan bags, and their metabolic content was subsequently interrogated by secondary electrospray ionization high-resolution mass spectrometry (SESI-HRMS).

Effect of daridorexant on sleep architecture in patients with chronic insomnia disorder: a pooled post hoc analysis of two randomized phase 3 clinical studies.

Study Objectives: Post hoc analysis to evaluate the effect of daridorexant on sleep architecture in people with insomnia, focusing on features associated with hyperarousal.

Methods: We studied sleep architecture in adults with chronic insomnia disorder from two randomized phase 3 clinical studies (Clinicaltrials.gov: NCT03545191 and NCT03575104) investigating 3 months of daridorexant treatment (placebo, daridorexant 25 mg, daridorexant 50 mg).

Inflammatory Type Focal Cerebral Arteriopathy of the Posterior Circulation in Children: A Comparative Cohort Study.

Background: Inflammatory type focal cerebral arteriopathy (FCA-i) in the anterior circulation (AC) is well characterized, and the focal cerebral arteriopathy severity score (FCASS) reflects the severity of the disease. We identified cases of FCA-i in the posterior circulation (PC) and adapted the FCASS to describe these cases.

Methods: In this comparative cohort study, patients from the Swiss NeuroPaediatric Stroke Registry with ischemic stroke due to FCA-i between January 2000 and December 2018 were analyzed.

Development and Evaluation of Deep Learning Models for Automated Estimation of Myelin Maturation Using Pediatric Brain MRI Scans.

Purpose: To predict the corresponding age of myelin maturation from brain MRI scans in infants and young children by using a deep learning algorithm and to build upon previously published models.

Materials And Methods: Brain MRI scans acquired between January 1, 2011, and March 17, 2021, in our institution in patients aged 0-3 years were retrospectively retrieved from the archive. An ensemble of two-dimensional (2D) and three-dimensional (3D) convolutional neural network models was trained and internally validated in 710 patients to predict myelin maturation age on the basis of radiologist-generated labels.

Prediction of systemic free and total valproic acid by off-line analysis of exhaled breath in epileptic children and adolescents.

Therapeutic drug monitoring (TDM) of medications with a narrow therapeutic window is a common clinical practice to minimize toxic effects and maximize clinical outcomes. Routine analyses rely on the quantification of systemic blood concentrations of drugs. Alternative matrices such as exhaled breath are appealing because of their inherent non-invasive nature.

Number, Duration, and Distribution of Wake Bouts in Patients with Insomnia Disorder: Effect of Daridorexant and Zolpidem.

Background: Daridorexant, a dual orexin receptor antagonist approved in early 2022, reduces wake after sleep onset without reducing the number of awakenings in patients with insomnia. The objective of this post hoc analysis was to explore the effect of daridorexant on the number, duration, and distribution of night-time wake bouts, and their correlation with daytime functioning.

Methods: Adults with insomnia disorder were randomized 1:1:1:1:1:1 to placebo, zolpidem 10 mg, or daridorexant 5, 10, 25, or 50 mg in a phase II dose-finding study, and 1:1:1 to placebo or daridorexant 25 or 50 mg in a pivotal phase III study.

UHPLC-MS/MS-Based Identity Confirmation of Amino Acids Involved in Response to and Side Effects from Antiseizure Medications.

Real-time breath analysis using secondary electrospray ionization coupled with high-resolution mass spectrometry is a fast and noninvasive method to access the metabolic state of a person. However, it lacks the ability to unequivocally assign mass spectral features to compounds due to the absence of chromatographic separation. This can be overcomed by using exhaled breath condensate and conventional liquid chromatography-mass spectrometry (LC-MS) systems.

Sleep architecture in neonatal and infantile onset epilepsies in the first six months of life: A scoping review.

Aim: Epilepsy occurs in approximately 80 per 100,000 infants in the first year of life, ranging in severity from self-limited and likely to spontaneously resolve, to severe developmental and epileptic encephalopathies. Sleep plays a key role in early brain development and the reciprocal relationship between sleep and seizures is not yet fully understood, particularly in young children. We conducted a Scoping Review to synthesise current knowledge of sleep architecture in neonates and infants with epilepsy.

EEG parameters as endpoints in epilepsy clinical trials - An expert panel opinion paper.

Introduction: The lack of ideal measurement of treatment efficacy is a well acknowledged problem in the epilepsy community, both in clinical care and clinical trials. Whilst still the current gold-standard, self-reported seizure frequency significantly underestimates the true number of seizures and does not account for any other at least equally important outcome parameters, such as neurodevelopment and cognition. With the rise of disease modifying treatments, the need for more reliable endpoints in practice and clinical trials becomes more pressing.

Sleep quality and architecture in Idiopathic generalized epilepsy: A systematic review and meta-analysis.

Idiopathic generalized epilepsies are a group of sleep related epilepsy syndromes with sleep deprivation as a strong trigger for seizures and increased spike-wave activity during sleep and transition to sleep. Neuropsychological deficits are common in Idiopathic generalized epilepsy patients. Learning and memory processes are closely linked to sleep.

Personalised therapeutic management of epileptic patients guided by pathway-driven breath metabolomics.

Background: Therapeutic management of epilepsy remains a challenge, since optimal systemic antiseizure medication (ASM) concentrations do not always correlate with improved clinical outcome and minimal side effects. We tested the feasibility of noninvasive real-time breath metabolomics as an extension of traditional therapeutic drug monitoring for patient stratification by simultaneously monitoring drug-related and drug-modulated metabolites.

Methods: This proof-of-principle observational study involved 93 breath measurements of 54 paediatric patients monitored over a period of 2.

6-year course of sleep homeostasis in a case with epilepsy-aphasia spectrum disorder.

The epilepsy-aphasia spectrum consists of epilepsies with a strong activation of epileptic discharges during non-rapid-eye-movement (NREM) sleep, variable seizure burden and language problems. The homeostatic decrease of slow waves (SW) during NREM sleep (i.e.

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).

Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations in the gene (Xq22.3). PRPS1 is an initial and essential step for the synthesis of the nucleotides of purines, pyrimidines, and nicotinamide.

The rhythm of a preterm neonate's life: ultradian oscillations of heart rate, body temperature and sleep cycles.

The objectives are to characterize oscillations of physiological functions such as heart rate and body temperature, as well as the sleep cycle from behavioral states in generally stable preterm neonates during the first 5 days of life. Heart rate, body temperature as well as behavioral states were collected during a daily 3-h observation interval in 65 preterm neonates within the first 5 days of life. Participants were born before 32 weeks of gestational age or had a birth weight below 1500 g; neonates with asphyxia, proven sepsis or malformation were excluded.

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.

Objective: Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG13 de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis.

Fingolimod in children with Rett syndrome: the FINGORETT study.

Background: Rett syndrome (RS) is a severe neurodevelopmental disorder for which there is no approved therapy. This study aimed to assess safety and efficacy of oral fingolimod in children with RS using a pre-post and case-control design.

Methods: At the University of Basel Children's Hospital, Basel, Switzerland, children with RS were included if they were older than 6 years and met the established diagnostic criteria of RS, including a positive MeCP2 mutation.

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

Pathogenic variants in , encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed at delineating the broad clinical spectrum of PRRT2-associated phenotypes in these children and their relatives. Only a few recent larger cohort studies are on record and findings from single reports were not confirmed so far.

Drug-drug and drug-food interactions in an infant with early-onset SCN2A epilepsy treated with carbamazepine, phenytoin and a ketogenic diet.

Sodium channel 2 subunit α (SCN2A) mutations cause difficult-to-treat early-onset epilepsy. Effective treatment includes high-dose phenytoin or carbamazepine ± ketogenic diet (KD). We describe an infant with early-onset SCN2A-epilepsy with subtherapeutic carbamazepine concentration during transition from phenytoin treatment to avoid long-term neurotoxicity.

Caffeine preserves quiet sleep in preterm neonates.

Caffeine is widely used in preterm neonates suffering from apnea of prematurity (AOP), and it has become one of the most frequently prescribed medications in neonatal intensive care units. Goal of this study is to investigate how caffeine citrate treatment affects sleep-wake behavior in preterm neonates. The observational study consists of 64 preterm neonates during their first 5 days of life with gestational age (GA) <32 weeks or very low birthweight of < 1500 g.

Subgroup analysis of seizure and cognitive outcome after vagal nerve stimulator implantation in children.

Objective: Vagal nerve stimulator (VNS) implantation at an early age seems to lead to improved quality of life and cognitive outcome. The aim of this analysis is to evaluate whether specific patient or seizure characteristics might lead to better seizure control, cognitive outcome, and higher quality of life in children undergoing VNS implantation.

Methods: Primary outcome measure was reduction in seizure frequency.

The role of sleep-related cognitive functions in the spectrum of benign epilepsy with centro-temporal spikes.

Heterogeneous cognitive deficits have been described in the spectrum of benign epilepsy with centro-temporal spikes, which strongly correlate with the intensity of interictal epileptiform discharges and its spreading, in particular during sleep, mostly within the perisylvian cognitive network. The aim of this review is to discuss current findings regarding the connection between sleep alterations and cognitive function in the spectrum of benign epilepsy with centro-temporal spikes. A longer sleep onset latency is the only evident sleep macrostructure alteration reported in the spectrum of benign epilepsy with centro-temporal spikes.

Heart rate fluctuation after birth predicts subsequent cardiorespiratory stability in preterm infants.

Background: Cardiorespiratory stability of preterm infants is a prerequisite for discharge from the neonatal intensive care unit (NICU) but very difficult to predict. We aimed to assess whether characterizing heart rate fluctuation (HRF) within the first days of life has prognostic utility.

Methods: We conducted a prospective cohort study in 90 preterm infants using a previously validated surface diaphragmatic electromyography (sEMG) method to derive interbeat intervals.