Pediatric acute-onset neuropsychiatric syndrome and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections: a delphi study and consensus document about definition, diagnostic criteria, treatment and follow-up.

Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections (PANDAS) and Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) are broad diagnoses that encompass a range of sudden-onset neuropsychiatric symptoms in children, which can include obsessive-compulsive disorder (OCD), tics, anxiety, emotional instability, and cognitive difficulties. Unlike PANDAS, PANS is not strictly linked to group A streptococcal infections but can be triggered by various infectious or environmental factors. Lights and shadows remain upon the management of children with PANS and PANDAS and there is no clear consensus regarding definition, diagnostic criteria, treatment, and follow-up.

Metabolomics: Unveiling biological matrices in precision nutrition and health.

Precision nutrition, an expanding field at the intersection of nutrition science and personalized medicine, is rapidly evolving with metabolomics integration. Metabolomics, facilitated by advanced technologies like mass spectrometry (MS) and nuclear magnetic resonance (NMR) spectroscopy, facilitates comprehensive profiling of metabolites across diverse biological samples. From the perspective of health care systems, precision nutrition gains relevance due to the substantial impact of prevalent non-communicable diseases (NCDs) on societal well-being, which is directly linked with dietary habits and eating behavior.

Magnetic Excitations in Ferromagnetically Coupled Spin-1 Nanographenes.

In the pursuit of high-spin building blocks for the formation of covalently bonded 1D or 2D materials with controlled magnetic interactions, -electron magnetism offers an ideal framework to engineer ferromagnetic interactions between nanographenes. As a first step in this direction, we explore the spin properties of ferromagnetically coupled triangulenes-triangular nanographenes with spin . By combining in-solution synthesis of rationally designed molecular precursors with on-surface synthesis, we successfully achieve covalently bonded triangulene dimers and trimers on Au(111).

Cancer cell stiffening via CoQ and UBIAD1 regulates ECM signaling and ferroptosis in breast cancer.

CoQ (Coenzyme Q) is an essential fat-soluble metabolite that plays a key role in cellular metabolism. A less-known function of CoQ is whether it may act as a plasma membrane-stabilizing agent and whether this property can affect cancer development and progression. Here, we show that CoQ and its biosynthetic enzyme UBIAD1 play a critical role in plasmamembrane mechanical properties that are of interest for breast cancer (BC) progression and treatment.

An intrinsic mechanism of metabolic tuning promotes cardiac resilience to stress.

Defining the molecular mechanisms underlying cardiac resilience is crucial to find effective approaches to protect the heart. A physiologic level of ROS is produced in the heart by fatty acid oxidation, but stressful events can boost ROS and cause mitochondrial dysfunction and cardiac functional impairment. Melusin is a muscle specific chaperone required for myocardial compensatory remodeling during stress.

Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region.

Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic acid-induced retinoic acid1 (RAI1) gene, determined by an interstitial deletion of ∼ 3.7 Mb (17p11.

Obesity, Dietary Patterns, and Hormonal Balance Modulation: Gender-Specific Impacts.

Understanding the intricate relationship between nutrition, hormonal balance, and gender-specific factors is crucial for developing targeted interventions to mitigate obesity-related endocrine disruptions and improve metabolic health. This narrative review examines the impact of various dietary patterns on hormonal regulation in both men and women, focusing on their effects on hormonal balance and metabolic health in the context of obesity. Calorie restriction, the Western diet, high-fat diets, low-CHO diets, plant-based diets, and the Mediterranean diet are analyzed in relation to their influence on obesity-related endocrine disruptions and metabolic health.

Oxygen-Promoted on-Surface Synthesis of Polyboroxine Molecules.

We present a protocol for the on-surface synthesis of polyboroxine molecules derived from boroxine molecules precursors. This process is promoted by oxygen species present on the Au(111) surface: oxygen atoms facilitate the detachment of naphthalene units of trinaphthyl-boroxine molecules and bridge two unsaturated boroxine centers to form a boroxine-O-boroxine chemical motif. X-ray spectroscopic characterization shows that, as the synthesis process proceeds, it progressively tunes the electronic properties of the interface, thus providing a promising route to control the electron level alignment.

Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).

Hypomyelinating leukodystrophies (HLD) are a group of heterogeneous genetic disorders characterized by a deficit in myelin deposition during brain development. Specifically, 4H-Leukodystrophy is a recessive disease due to biallelic mutations in the POLR3A gene, which encodes one of the subunits forming the catalytic core of RNA polymerase III (PolIII). The disease also presents non-neurological signs such as hypodontia and hypogonadotropic hypogonadism.

Intraoperative Neurophysiological Monitoring in Neurosurgery.

Intraoperative neurophysiological monitoring (IONM) is a crucial advancement in neurosurgery, enhancing procedural safety and precision. This technique involves continuous real-time assessment of neurophysiological signals, aiding surgeons in timely interventions to protect neural structures. In addition to inherent limitations, IONM necessitates a detailed anesthetic plan for accurate signal recording.

Targeted Analysis of Plasma Polar Metabolites in Postmenopausal Depression.

Depression will be the disease with the highest incidence worldwide by 2030. Data indicate that postmenopausal women have a higher incidence of mood disorders, and this high vulnerability seems to be related to hormonal changes and weight gain. Although research evaluating the profile of metabolites in mood disorders is advancing, further research, maintaining consistent methodology, is necessary to reach a consensus.

Metabolic imprinting in beef calves supplemented with creep feeding on performance, reproductive efficiency and metabolome profile.

This experiment evaluated the influence of creep feeding supplementation on productive and reproductive performance and on serum metabolome profile in Nelore (Bos indicus) heifers. Female calves were assigned to treatments: Creep (n = 190), with ad libitum access to a nutritional supplement from 70 to 220 days after birth, or Control (n = 140), without supplementation. After weaning (Day 220), both groups followed the same pasture and nutritional management.

CO and O Interaction with Kinked Pt Surfaces.

We investigate the chemical interaction of carbon monoxide (CO) and oxygen (O) with kink atoms on steps of platinum crystal surfaces using a specially designed Pt curved sample. We aim at describing the fundamental stages of the CO oxidation reaction, i.e.

Primary Intracranial Gliosarcoma: Is It Really a Variant of Glioblastoma? An Update of the Clinical, Radiological, and Biomolecular Characteristics.

Gliosarcomas (GS) are sporadic malignant tumors classified as a Glioblastoma (GBM) variant with IDH-wild type phenotype. It appears as a well-circumscribed lesion with a biphasic, glial, and metaplastic mesenchymal component. The current knowledge about GS comes from the limited literature.

p140Cap modulates the mevalonate pathway decreasing cell migration and enhancing drug sensitivity in breast cancer cells.

p140Cap is an adaptor protein involved in assembling multi-protein complexes regulating several cellular processes. p140Cap acts as a tumor suppressor in breast cancer (BC) and neuroblastoma patients, where its expression correlates with a better prognosis. The role of p140Cap in tumor metabolism remains largely unknown.

Phosphate starvation decouples cell differentiation from DNA replication control in the dimorphic bacterium Caulobacter crescentus.

Upon nutrient depletion, bacteria stop proliferating and undergo physiological and morphological changes to ensure their survival. Yet, how these processes are coordinated in response to distinct starvation conditions is poorly understood. Here we compare the cellular responses of Caulobacter crescentus to carbon (C), nitrogen (N) and phosphorus (P) starvation conditions.

Exchange Interactions and Intermolecular Hybridization in a Spin-/ Nanographene Dimer.

Phenalenyl is a radical nanographene with a triangular shape hosting an unpaired electron with spin = /. The open-shell nature of the phenalenyl is expected to be retained in covalently bonded networks. As a first step, we report synthesis of the phenalenyl dimer by combining in-solution synthesis and on-surface activation and its characterization on Au(111) and on a NaCl decoupling layer by means of inelastic electron tunneling spectroscopy (IETS).

Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.

Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. Adeno-associated viral vector-mediated gene transfer of the human DDC gene injected into the putamen is available. The typical presentation is characterized by early-onset hypotonia, severe developmental delay, movement disorders, and dysautonomia.

Patient-reported outcomes and pharmacist actions in patients with multiple sclerosis managed by health-system specialty pharmacies.

Purpose: This study evaluated patient-reported outcomes (PROs) and pharmacist actions for patients on disease-modifying therapies (DMTs) for multiple sclerosis (MS) through health-system specialty pharmacies (HSSPs).

Methods: A multisite, prospective cohort study of patients utilizing an HSSP for DMT fulfillment was performed. Primary outcomes were affirmative answers to PRO questions regarding impacted productivity, hospitalization, and relapse and pharmacist actions.

Metabolomic analysis of follicular fluid from women with Hashimoto thyroiditis.

Hashimoto thyroiditis is an autoimmune disease characterized by hypothyroidism and a high level of anti-thyroid autoantibodies. It has shown to negatively impact female fertility; however, the mechanisms are unclear. Ovarian follicular fluid appears to be the key to understanding how Hashimoto thyroiditis affecst fertility.