One-week test-retest recordings of resting cardiorespiratory data for reliability analysis.

Heart rate variability (HRV) is a key indicator of cardiac autonomic function, making reliable assessment crucial. To examine the test-retest stability of resting HRV in healthy individuals, fifty participants attended two lab sessions within a week, at the same time of day. After a 5-minute acclimatization period, electrocardiogram and respiration were recorded at rest.

Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias.

Mutations in the mitochondrial enzyme propionyl-CoA carboxylase (PCC) cause propionic aciduria (PA). Chronic kidney disease (CKD) is a known long-term complication. However, good metabolic control and standard therapy fail to prevent CKD.

White matter differences between younger and older adults revealed by fixel-based analysis.

The process of healthy aging involves complex alterations in neural structures, with white matter (WM) changes significantly impacting cognitive and motor functions. Conventional methods such as diffusion tensor imaging provide valuable insights, but their limitations in capturing complex WM geometry advocate for more advanced approaches. In this study involving 120 healthy volunteers, we investigated whole-brain WM differences between young and old individuals using a novel technique called fixel-based analysis (FBA).

Site-selective modifications by lipid A phosphoethanolamine transferases linked to colistin resistance and bacterial fitness.

Unlabelled: Genes encoding lipid A modifying phosphoethanolamine transferases (PETs) are genetically diverse and can confer resistance to colistin and antimicrobial peptides. To better understand the functional diversity of PETs, we characterized three canonical mobile colistin resistance () alleles (, , ), one intrinsic (), and two -like genes (, ) in . Using an isogenic expression system, we show that and confer similar phenotypes of decreased colistin susceptibility with low fitness costs.

Polygenic risk for psychotic disorders in relation to cardiac autonomic dysfunction in unmedicated patients with schizophrenia.

Cardiac autonomic dysfunction (CADF), mainly characterized by increased heart rate, decreased heart rate variability, and loss of vagal modulation, has been extensively described in patients with schizophrenia (SCZ) and their healthy first-degree relatives. As such, it represents an apparent physiological link that contributes to the increased cardiovascular mortality in these patients. Common genetic variation is a putative underlying mechanism, along with lifestyle factors and antipsychotic medications.

Fungi as Turing automata with oracles.

In the article, we aim to understand the responses of living organisms, exemplified by mycelium, to external stimuli through the lens of a Turing machine with an oracle (oTM). To facilitate our exploration, we show that a variant of an oTM is a cellular automaton with an oracle, which aptly captures the intricate behaviours observed in organisms such as fungi, shedding light on their dynamic interactions with their environment. This interaction reveals forms of reflection that can be interpreted as a minimum volume of consciousness.

Fibre-specific white matter changes in anorexia nervosa.

A large body of literature exists on white matter (WM) abnormalities in individuals with anorexia nervosa (AN). However, these studies have primarily relied on the diffusion tensor imaging (DTI), a technique known for its limited ability to resolve complex WM fibre arrangements. To overcome limitations of DTI, this study employed fixel-based analysis (FBA) to investigate fibre-specific WM abnormalities in AN.

Genus : An identification aid version 4.00.

Species identification is fundamental to all aspects of biology and conservation. The process can be challenging, particularly in groups including many closely related or similar species. The problem is confounded by the absence of an up-to-date taxonomic revision, but even with such a resource all but professional botanists may struggle to recognise key species, presenting a substantial barrier to vital work such as surveys, threat assessments, and seed collection for ex situ conservation.

Preclinical Characterization of DPI-4452: A Ga/Lu Theranostic Ligand for Carbonic Anhydrase IX.

The membrane protein carbonic anhydrase IX (CAIX) is highly expressed in many hypoxic or von Hippel-Lindau tumor suppressor-mutated tumor types. Its restricted expression in healthy tissues makes CAIX an attractive diagnostic and therapeutic target. DPI-4452 is a CAIX-targeting cyclic peptide with a DOTA cage, allowing radionuclide chelation for theranostic purposes.

What challenges do siblings of children with chronic disorders express to their parents? A thematic analysis of 73 sibling-parent dialogues.

Purpose: The study explored challenges experienced by siblings of children with chronic disorders, as expressed by siblings in parent-child dialogues.

Design And Methods: Seventy-three parent-child dialogues (M duration = 28.6 min) were analyzed using qualitative thematic analysis.

Enhancing Human Papillomavirus Vaccination Rates through Better Knowledge? Insights from a Survey among German Medical Students.

Introduction: Vaccination against human papillomavirus (HPV) significantly reduces the risk for malignant diseases like cervix, anal, or penile cancer. However, although vaccination rates are rising, they are still too low mirroring a lack of disease awareness in the community. This study aims to evaluate knowledge about HPV vaccination as well as the vaccination rate among German medical students.

A systematic review of metabolomic findings in adult and pediatric renal disease.

Chronic kidney disease (CKD) affects over 0.5 billion people worldwide across their lifetimes. Despite a growingly ageing world population, an increase in all-age prevalence of kidney disease persists.

Recurrent de novo variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the upper and lower motor neurons with varying ages of onset, progression and pathomechanisms. Monogenic childhood-onset ALS, although rare, forms an important subgroup of ALS. We recently reported specific variants resulting in sphingolipid overproduction as a cause for juvenile ALS.

Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study.

Introduction: Autism spectrum disorder (ASD) encompasses a heterogeneous group with varied phenotypes and etiologies. Identifying pathogenic subgroups could facilitate targeted treatments. One promising avenue is investigating energy metabolism, as mitochondrial dysfunction has been implicated in a subgroup of ASD.

Sex differences in the age-related decrease of spontaneous baroreflex function in healthy individuals.

The baroreflex is a powerful physiological mechanism for rapidly adjusting heart rate in response to changes in blood pressure. Spontaneous baroreflex sensitivity (BRS) has been shown to decrease with age. However, studies of sex differences in these age-related changes are rare.

Non-destructive, solvent-free quantification of wood preservatives in wood flour and wooden objects using GC-DTIMS.

Qualitative and quantitative on-site detection methods for wood preservatives are of high value for the recycling industry and the occupational health and safety. Wood preservatives revealed as toxic to human and environment after decades of use. For the detection of contaminated wood and for processing of matured timber to particle boards a versatile detection method is needed.

"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.

Purpose: Congenital disorders of glycosylation (CDG) are one of the fastest growing groups of inborn errors of metabolism. Despite the availability of next-generation sequencing techniques and advanced methods for evaluation of glycosylation, CDG screening mainly relies on the analysis of serum transferrin (Tf) by isoelectric focusing, HPLC or capillary electrophoresis. The main pitfall of this screening method is the presence of Tf protein variants within the general population.

Triphosphiranes as phosphinidene-transfer agents - synthesis of regular and chelating NHC phosphinidene adducts.

In this contribution we describe the general use of aryl-substituted triphosphiranes (ArP; Ar = Mes, Dip, Tip) as phosphinidene transfer reagents towards N-heterocyclic carbenes (NHCs) to give a library of twelve N-heterocyclic carbene phosphinidene adducts of the type ArPNHC (NHCPs), in which the NHCs have varying steric profiles, allowing a systematic evaluation of their structural and NMR-spectroscopic properties. In the next series of experiments we utilized 1,3- and 1,4-phenylene bridged bis-NHCs to access a new class of chelating bis(NHCP)s, of which three derivatives could be structurally characterized. The 1,4-phenylene derivatives were shown to be susceptible to P-C bond cleavage when irradiated with an LED (396 nm), providing a rare example of phosphinidene release from NHCPs.

Altered markers of mitochondrial function in adults with autism spectrum disorder.

Previous research suggests potential mitochondrial dysfunction and changes in fatty acid metabolism in a subgroup of individuals with autism spectrum disorder (ASD), indicated by higher lactate, pyruvate levels, and mitochondrial disorder prevalence. This study aimed to further investigate potential mitochondrial dysfunction in ASD by assessing blood metabolite levels linked to mitochondrial metabolism. Blood levels of creatine kinase (CK), alanine aminotransferase (ALT), aspartate aminotransferase (AST), lactate, pyruvate, free and total carnitine, as well as acylcarnitines were obtained in 73 adults with ASD (47 males, 26 females) and compared with those of 71 neurotypical controls (NTC) (44 males, 27 females).

Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.

Kidney disease is a global health burden with high morbidity and mortality. Causes of kidney disease are numerous, extending from common disease groups like diabetes and arterial hypertension to rare conditions including inherited metabolic diseases (IMDs). Given its unique anatomy and function, the kidney is a target organ in about 10% of known IMDs, emphasizing the relevant contribution of IMDs to kidney disease.

Testing visual self-misperception in anorexia nervosa using a symmetrical body size estimation paradigm.

Objective: Individuals diagnosed with anorexia nervosa (AN) often report seeing themselves as overweight. While body size estimation tasks suggest that such individuals overestimate their body size, these tasks have failed to establish whether this misestimation stems from visual misperception. Misestimation might, instead, be due to response bias.

Riboflavin 1 Transporter Deficiency: Novel Variants and Expansion of the Phenotypic Spectrum.

Riboflavin transporter 1 (RFVT1) deficiency is an ultrarare metabolic disorder due to autosomal dominant pathogenic variants in . The RFVT1 protein is mainly expressed in the placenta and intestine. To our knowledge, only five cases of RFVT1 deficiency from three families have been reported so far.

Escherichia coli B-Strains Are Intrinsically Resistant to Colistin and Not Suitable for Characterization and Identification of Genes.

Antimicrobial resistance is an increasing threat to human and animal health. Due to the rise of multi-, extensive, and pandrug resistance, last resort antibiotics, such as colistin, are extremely important in human medicine. While the distribution of colistin resistance genes can be tracked through sequencing methods, phenotypic characterization of putative antimicrobial resistance (AMR) genes is still important to confirm the phenotype conferred by different genes.

The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria.

Methylmalonic aciduria (MMA-uria) is caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). MUT deficiency hampers energy generation from specific amino acids, odd-chain fatty acids and cholesterol. Chronic kidney disease (CKD) is a well-known long-term complication.