EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

Evidence that altercentric biases in a continuous false belief task depend on highlighting the agent's belief.

As social beings, we excel at understanding what other people think or believe. We even seem to be influenced by the belief of others in situations where it is irrelevant to our current tasks. Such altercentric interference has been proposed to reflect implicit belief processing.

Clinical Manifestations.

Background: Speech and language impairments are associated with cognitive decline in neurodegenerative dementias, particularly Alzheimer's Disease (AD), where subtle speech changes may precede clinical dementia onset. As clinical trials prioritize early identification for disease-modifying treatments, digital biomarkers for timely screening become imperative. Digital speech-based biomarkers can be employed for screening populations at the earliest AD stages.

Affinity maturation endows potent activity onto class 6 SARS-CoV-2 broadly neutralizing antibodies.

The emergence of SARS-CoV-2 variants of concern (VOCs) has greatly diminished the neutralizing activity of previously FDA-approved monoclonal antibodies (mAbs), including that of antibody cocktails and of first-generation broadly neutralizing antibodies such as S309 (Sotrovimab). In contrast, antibodies targeting cryptic conformational epitopes of the receptor binding domain (RBD) have demonstrated broad activity against emerging variants, but exert only moderate neutralizing activity, which has so far hindered clinical development. Here, we utilize in vitro display technology to identify and affinity-mature antibodies targeting the cryptic class 6 epitope, accessible only in the "up" conformation of the SARS-CoV-2 spike trimer.

Complete genome sequence of sp. strain DSM 10557, isolated from the leachate of an industrial compost heap.

We present the complete genome of sp. DSM 10557, isolated from compost heap leakage (leachate). The genome consists of a single chromosome (7,067,087 bp) with a GC content of 56.

Ecological and anthropogenic effects on the genomic diversity of lemurs in Madagascar.

Ecological variation and anthropogenic landscape modification have had key roles in the diversification and extinction of mammals in Madagascar. Lemurs represent a radiation with more than 100 species, constituting roughly one-fifth of the primate order. Almost all species of lemurs are threatened with extinction, but little is known about their genetic diversity and demographic history.

Prolonged survival by combination treatment with a standardized herbal extract from Japanese Kampo-medicine (Juzentaihoto) and gemcitabine in an orthotopic transplantation pancreatic cancer model.

Pancreatic ductal adenocarcinoma (PDAC) is characterized by its poor prognosis. Traditional Japanese herbal medicine (Kampo), such as Juzentaihoto (a standardized combination of 10 herbal extracts), has shown immune modulatory effects, modulation of microcirculation, and amelioration of fatigue. It is administered to patients to prevent deterioration of cachexia and counteract side effects of chemotherapy.

Combination of FSH and testosterone could enhance activation of primordial follicles and growth of activated follicles in 1-day-old mice ovaries cultured for 12 days.

Treatment with follicle-stimulating hormone (FSH) and testosterone (T2) and their combination have been observed to be influential on ovarian follicles of 1-day-old mice ovaries cultured for 8 days. Given that extension of the culture period could positively impact the development of follicles in cultured ovaries, the present study was conducted to evaluate the main and interaction effects of FSH by T2 on the development of ovarian follicles in 1-day-old mice ovaries cultured for 12 days. One-day-old mice ovaries were initially cultured with base medium for 4 days; thereafter, different hormonal treatments were added to the culture media, and the culture was continued for 8 additional days until day 12.

Effectiveness of hepatitis A immunisation after paediatric liver transplantation: A retrospective observational analysis.

This retrospective study aimed to investigate the response to hepatitis A virus (HAV) immunisation following liver transplantation. We analysed, 234 vaccination records of 284 children who underwent liver transplantation between January 2003 and July 2021, including annual serological results. Of the 120 HAV-naïve patients, approximately 71% and 83% showed seroconversion after receiving one and two vaccine doses, respectively.

MINFLUX fluorescence nanoscopy in biological tissue.

Optical imaging access to nanometer-level protein distributions in intact tissue is a highly sought-after goal, as it would provide visualization in physiologically relevant contexts. Under the unfavorable signal-to-background conditions of increased absorption and scattering of the excitation and fluorescence light in the complex tissue sample, superresolution fluorescence microscopy methods are severely challenged in attaining precise localization of molecules. We reasoned that the typical use of a confocal detection pinhole in MINFLUX nanoscopy, suppressing background and providing optical sectioning, should facilitate the detection and resolution of single fluorophores even amid scattering and optically challenging tissue environments.

Influences of fat-protein-ratio and udder health parameters on the milk urea content of dairy cows.

The milk urea content is influenced by a large variety of factors, including the quantity and quality of protein fed, its balance with energy, diurnal fluctuations, management, season, analysis method, and also individual cow factors which include the health status of the cow. Aim of this study was to investigate the effects of metabolic disorders (ketosis, ruminal acidosis; indicated by the fat-protein-content of the milk) as well as high somatic cell counts and udder diseases on the milk urea content of dairy cows from different regions and farms across Germany. For this purpose, 5 independent data sets which contain information derived from monthly milk recordings (data sets A (6,140,342 test-data in 2015), data set D (439,767 test-data in 2020-2023), data set E (399,279 test-data in 2019-2020)) in combination with the differential somatic cell count (DSCC) in data set D and E, or individual recordings of daily feed and energy intake and milk analysis (data set B (58,235 test-data in 2014-2017) and data set C (352,346 test-data in 2018-2021)), were analyzed.

The synthetic cannabinoid WIN 55,212-2 attenuates cognitive and motor deficits and reduces amyloid load in 5XFAD Alzheimer mice.

Background: Alzheimer's disease (AD) is characterized by cognitive decline, with pathological features including amyloid β (Aβ) plaques and inflammation. Despite recent approvals of anti-amyloid antibodies, there remains a need for disease-modifying and easily accessible therapies. The endocannabinoid system presents a promising target for AD treatment, as it regulates various processes implicated in AD pathogenesis.

Cardiovascular PET imaging of fibroblast activation A review of the current literature.

Fibrosis is one of the key healing responses to injury, especially within the heart where it helps to maintain structural integrity following acute insults such as myocardial infarction. However, if it becomes dysregulated then fibrosis can become maladaptive leading to adverse remodelling, impaired cardiac function and heart failure. Fibroblast activation protein is exclusively expressed by activated fibroblasts, the key effector cells of fibrogenesis, and has a unique extracellular domain that is an ideal ligand for novel molecular imaging probes.

From evidence to care delivery: Opportunities and risks in health and science policy. A position paper of the Association of the Scientific Medical Societies in Germany (AWMF).

Objective: After over 25 years of developing clinical practice guidelines, the Association of the Scientific Medical Societies in Germany (AWMF) held a symposium to discuss the following topics in order to improve the way evidence is implemented in the delivery of care: expansion of the data pool for guideline development, the regulatory policy framework for this expansion, the transfer of clinical practice guideline statements to medical practice, the associated opportunities and risks resulting from the European legislation.

Methods: The AWMF held its Berlin Forum on 27 April 2022 where experts from scientific medical societies and national institutions in the healthcare sector reported their experiences and perceptions on the topics mentioned. Three writing groups compiled the key statements from these contributions to and discussions made at the Berlin Forum into a position paper.

Artificial intelligence-based rapid brain volumetry substantially improves differential diagnosis in dementia.

Introduction: This study evaluates the clinical value of a deep learning-based artificial intelligence (AI) system that performs rapid brain volumetry with automatic lobe segmentation and age- and sex-adjusted percentile comparisons.

Methods: Fifty-five patients-17 with Alzheimer's disease (AD), 18 with frontotemporal dementia (FTD), and 20 healthy controls-underwent cranial magnetic resonance imaging scans. Two board-certified neuroradiologists (BCNR), two board-certified radiologists (BCR), and three radiology residents (RR) assessed the scans twice: first without AI support and then with AI assistance.

Feasibility of hand disinfection in paediatric advanced life support (PALS): A simulation study.

Background: Hand disinfection is often omitted during emergencies because it may delay life-saving treatments. As healthcare-associated infections significantly worsen patient outcomes, the categorical omission of hand disinfection in emergencies should be re-evaluated. Real-world observations on this subject tentatively indicate compliance rates of <10%.

Local Hydrogen Concentration and Distribution in Pd Nanoparticles: An In Situ STEM-EELS Approach.

Local detection of hydrogen concentration in metals is of central importance for many areas of hydrogen technology, such as hydrogen storage, detection, catalysis, and hydrogen embrittlement. A novel approach to measure the hydrogen concentration in a model system consisting of cubic palladium nanoparticles (Pd NPs), with a lateral resolution down to 4 nm is demonstrated. By measuring the shift of the Pd bulk plasmon peak with scanning transmission electron microscopy (STEM) combined with energy electron loss spectroscopy (EELS) during in situ hydrogen gas loading and unloading, local detection of the hydrogen concentration is achieved in TEM.

PSMA - Targeted Clinical Molecular Imaging of Atherosclerosis: Correlation with Cardiovascular Risk Factors.

Aim: The early diagnosis of atherosclerotic changes to prevent ischemic events represents a clinical challenge.Prostate-specific membrane antigen (PSMA) as an established diagnostic in the field of prostate cancer also appears to detect neovascularization and inflammation in other diseases. We hypothesized that it might be also suited for detection of inflammation in atherosclerosis.

Unlocking Probiotic Potential: Genomic Insights into Weissella paramesenteroides UFTM 2.6.1.

Weissella, a genus of lactic acid bacteria, has diverse beneficial attributes including probiotic activity and biotechnological applications. Therefore, the investigation of the Weissella genus has garnered growing interest. In this study, we sequenced the complete genome of Weissella paramesenteroides UFTM 2.

Enzymatic Upgrading of Biomass-Derived Aldoses to Rare Deoxy Ketoses Catalyzed by Transketolase Variants.

A sustainable, convenient, scalable, one-step method for the two-carbon chain elongation of cheap and biomass-derived pentoses (l-arabinose, and 2-deoxy-d-ribose) and hexose l-rhamnose was developed to produce C deoxy ketoses (C-7 and C-8) using transketolase, an enzyme catalyzing the quasi-irreversible transfer of a ketol group from an α-keto acid to an aldehyde. Deoxygenated ketoses - commonly obtained by chemical synthesis - were afforded through a suitable combination of both nucleophile and electrophile substrates in the presence of rationally designed TK variants. Pyruvate as nucleophile with pentose l-arabinose (C-5) as electrophile gave 1-deoxy-L-gluco-heptulose (C-7), while ß-hydroxypyruvate (HPA) as nucleophile with acceptors 2-deoxy-d-ribose (C-5) and 6-deoxy-l-mannose (l-rhamnose) (C-6) led to formation of 4-deoxy-d-altro-heptulose (C-7) and 8-deoxy-l-glycero-l-galacto-octulose (C-8), respectively.

The genetics of resistance to infectious pancreatic necrosis virus in rainbow trout unveiled through survival and virus load data.

Infectious Pancreatic Necrosis virus (IPNV) is one of the major threats to the animal welfare and economy of the rainbow trout farming industry. Previous research has demonstrated significant genetic variation for resistance against IPNV. The main objective of the study was to investigate the genetic architecture of resistance against IPNV in rainbow trout fry.

Advanced aspects of acetogens.

Acetogens are a diverse group of anaerobic bacteria that are capable of carbon dioxide fixation and have for long fascinated scientists due to their unique metabolic prowess. Historically, acetogens have been recognized for their remarkable ability to grow and to produce acetate from different one-carbon sources, including carbon dioxide, carbon monoxide, formate, methanol, and methylated organic compounds. The key metabolic pathway in acetogens responsible for converting these one-carbon sources is ́the Wood-Ljungdahl pathway.