Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum.

Biallelic variants in SHMT2 cause neurodevelopmental disorders with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; OMIM: 619121). This recently described metabolic disorder are characterized by severe intellectual disability, microcephaly, spastic paraplegia, peripheral neuropathy, corpus callosum dysgenesis, facial and limb deformities, and progressive hypertrophic cardiomyopathy. Herein we describe the clinical characteristics of a 13 years old patient with novel compound heterozygous SHMT2 missense variants (c.

Oxidative stress, neuroinflammation, and the blood-brain barrier biomarkers on the brain response to spaceflight.

Prolonged spaceflight can induce physiologic and pathologic abnormalities in the central nervous system (CNS). Our knowledge of the adaptive and/or detrimental effects of spaceflight on the structure and function of the nervous system is limited. Substantial effort has been devoted to identifying and developing reliable indicators to characterize and predict CNS injury and dysfunction associated with prolonged exposure to major components of the space environment including microgravity, physiological/psychological stress, and radiation from galactic cosmic rays (GCR) and solar particle events (SPEs) outside of low earth orbit (LEO).

Association between situs inversus and maternal SARS-CoV-2 infection at gestational age 4-6 weeks.

Background: A dramatic increase in fetal situs inversus diagnoses by ultrasound in the months following the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) surge of December 2022 in China led us to investigate whether maternal SARS-CoV-2 exposure could be associated with elevated risk of fetal situs inversus.

Methods: In this multi-institutional, hospital-based, matched case-control study, we investigated pregnant women who underwent ultrasonographic fetal biometric assessment at gestational weeks 20-24 at our hospitals. Each pregnant woman carrying a situs inversus fetus was randomly matched with four controls based on the date of confinement.

Effects of spaceflight on the brain.

The number of long duration human spaceflights has increased substantially over the past 15 years, leading to the discovery of numerous effects on the CNS. Microgravity results in headward fluid shifts, ventricular expansion, an upward shift of the brain within the skull, and remodelling of grey and white matter. The fluid changes are correlated with changes to perivascular space and spaceflight associated neuro-ocular syndrome.

T1-Weighted Imaging-Based Hippocampal Radiomics in the Diagnosis of Alzheimer's Disease.

Rationale And Objectives: To investigate the potential of T1-weighted imaging (T1WI)-based hippocampal radiomics as imaging markers for the diagnosis of Alzheimer's disease (AD) and their efficacy in discriminating between mild cognitive impairment (MCI) and dementia in AD.

Methods: A total of 126 AD patients underwent T1WI-based magnetic resonance imaging (MRI) examinations, along with 108 age-sex-matched healthy controls (HC). This was a retrospective, single-center study conducted from November 2021 to February 2023.

The effect of detoxification on acoustic features of Mandarin speech in male heroin users.

This study aims to investigate the effect of detoxification on acoustic features of Mandarin speech. Speech recordings were collected from 66 male abstinent heroin users with different durations of drug detoxification, specifically early abstinent users with a detoxification duration of less than 2 years, sustained abstinent users with 2 years of detoxification, and long-term abstinent users with a detoxification duration of more than 2 years. The results of the acoustic analyses showed that early abstinent users exhibited lower loudness, relative energies of F1, F2, and F3, higher H1-A3, and fewer loudness peaks per second, as well as a longer average duration of unvoiced segments, compared to the sustained and long-term abstinent users.

Secretome profiling reveals acute changes in oxidative stress, brain homeostasis, and coagulation following short-duration spaceflight.

As spaceflight becomes more common with commercial crews, blood-based measures of crew health can guide both astronaut biomedicine and countermeasures. By profiling plasma proteins, metabolites, and extracellular vesicles/particles (EVPs) from the SpaceX Inspiration4 crew, we generated "spaceflight secretome profiles," which showed significant differences in coagulation, oxidative stress, and brain-enriched proteins. While >93% of differentially abundant proteins (DAPs) in vesicles and metabolites recovered within six months, the majority (73%) of plasma DAPs were still perturbed post-flight.

Prevalence, treatment efficacy, and risk factors of vascular complications in acute pancreatitis: A case-control study.

Objective: We aimed to investigate the prevalence of vascular complications in acute pancreatitis (AP), to compare patient outcomes using various treatments, and to explore the related risk factors.

Methods: Consecutive AP patients admitted from January 2010 to July 2017 were retrospectively included. Demographics, vascular complications, laboratory indices, and imaging findings were collected.

Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.

An encephalocele is a congenital malformation characterized by protrusion of the intracranial contents through a cranial defect. We report that a fetus of a pregnant mother who had two consecutive pregnancies with ultrasound-detected encephalocele carried compound heterozygous variants in NM_152490.5:c.

De novo variants in are associated with early-onset epilepsy.

Background: encodes a subunit of G-protein-coupled inwardly rectifying potassium channels, which are important for cellular excitability and inhibitory neurotransmission. However, the genetic basis of in epilepsy has not been determined. This study aimed to identify the pathogenic variants in patients with epilepsy.

Circuits and Biomarkers of the Central Nervous System Relating to Astronaut Performance: Summary Report for a NASA-Sponsored Technical Interchange Meeting.

Biomarkers, ranging from molecules to behavior, can be used to identify thresholds beyond which performance of mission tasks may be compromised and could potentially trigger the activation of countermeasures. Identification of homologous brain regions and/or neural circuits related to operational performance may allow for translational studies between species. Three discussion groups were directed to use operationally relevant performance tasks as a driver when identifying biomarkers and brain regions or circuits for selected constructs.

Role of sesquiterpenes in biogenic new particle formation.

Biogenic vapors form new particles in the atmosphere, affecting global climate. The contributions of monoterpenes and isoprene to new particle formation (NPF) have been extensively studied. However, sesquiterpenes have received little attention despite a potentially important role due to their high molecular weight.

Effects of different doses of esketamine intervention on postpartum depressive symptoms in cesarean section women: A randomized, double-blind, controlled clinical study.

Background: The optimal dosage and method of esketamine for postpartum depressive symptoms (PDS) are unclear. We conducted a randomized controlled trial (RCT) to investigate the effect of different doses of esketamine on PDS in women undergoing cesarean section, with evidence of prenatal depression.

Methods: The three groups were high- (2 mg kg) and low-dose (1 mg kg) esketamine via patient controlled intravenous analgesia (PCIA), following an initial intravenous infusion of 0.

Effect of OH scavengers on the chemical composition of α-pinene secondary organic aerosol.

OH scavengers are extensively used in studies of secondary organic aerosol (SOA) because they create an idealized environment where only a single oxidation pathway is occurring. Here, we present a detailed molecular characterization of SOA produced from α-pinene + O with a variety of OH scavengers using the extractive electrospray time-of-flight mass spectrometer in our atmospheric simulation chamber, which is complemented by characterizing the gas phase composition in flow reactor experiments. Under our experimental conditions, radical chemistry largely controls the composition of SOA.