Effect of one-week New Zealand blackcurrant extract on rowing performance and cognitive function in National team male rowers.

This research investigated the impact of New Zealand blackcurrant (NZBC) on 2000-meter rowing ergometer performance and cognitive abilities. Nine trained male rowers from Iran's national team participated in a double-blind, placebo-controlled crossover study, undergoing three sessions with NZBC (600 mg∙day-1), placebo (PL), and control (CL) treatments over seven days, followed by a 14-day washout period. Participants completed a 2000-meter ergometer test provided self-reported ratings of perceived exertion (RPE) and completed a cognitive function assessment five minutes following the rowing exercise.

Human Oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.

Oncostatin M (OSM) is a cytokine with the unique ability to interact with both the OSM receptor (OSMR) and the leukemia inhibitory factor receptor (LIFR). On the other hand, OSMR interacts with IL31RA to form the interleukin-31 receptor. This intricate network of cytokines and receptors makes it difficult to understand the specific function of OSM.

A patient with TPCN2-related hypopigmentation and ocular phenotype.

Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

Individual Responses to Repeated Dosing with Anthocyanin-Rich New Zealand Blackcurrant Extract During High-Intensity Intermittent Treadmill Running in Active Males.

Unlabelled: Intake of New Zealand blackcurrant (NZBC) extract for 7 days has been shown to improve high-intensity intermittent running (HIIR) performance.

Objectives: We examined the repeat response of NZBC extract on HIIR performance.

Methods: Sixteen active males (age: 23 ± 3 yrs, height: 179 ± 5 cm, mass: 79 ± 11 kg, V˙O: 55.

Effects of New Zealand Black Currant Extract on Exercising Substrate Utilization and Postexercise Blood Pressure in Men and Women.

New Zealand black currant extract (NZBC) has been shown to increase fat oxidation during exercise and decrease the postexercise blood pressure in men and women. The change in fat oxidation by NZBC has also been shown to be correlated to body composition in men and women. There has never been a comparison of sex responses within the same study.

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.

Marfan syndrome (MFS) is a well-characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single-nucleotide variants (SNVs) in the FBN1 gene (MIM#134797) located on chromosome 15q21.1.

An open-source framework for the generation of OpenSim models with personalised knee joint geometries for the estimation of articular contact mechanics.

Musculoskeletal modelling pipelines typically use generic models scaled to individual's anthropometry. The ability to represent variations in bone or joint geometry and alignment is highly limited. This may have a large effect, particularly when modelling contact between articular surfaces such as for the knee where articular contact mechanics are used to determine joint kinematics and the resulting cartilage contact pressures and locations.

Reliable replicative lifespan determination of yeast with a single-channel microfluidic chip.

Saccharomyces cerevisiae is a powerful model for aging research due to its short lifespan and genetic malleability. Microfluidic devices offer an attractive approach enabling rapid monitoring of hundreds of cells during their entire replicative lifespan (RLS). Yet, key operational issues such as contaminations, cell loss, and cell-aggregates-dependent flow obstruction can hinder RLS experiments.

The impact of Charcot-Leyden Crystal protein on mesothelioma chemotherapy: targeting eosinophils for enhanced chemosensitivity.

Background: In mesothelioma (MPM), clinical evidence indicates that the absolute eosinophil count negatively correlates with overall survival and response to standard chemotherapy. Since eosinophils poorly infiltrate MPM tumours, we hypothesised that endocrine rather than paracrine pathways mediate the therapeutic response. We thus studied the effect of eosinophil-associated factors on response to chemotherapy in mesothelioma.

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case-series of 11 patients with neurodevelopmental phenotypes harbouring de novo monoallelic variants in DDX17. All 11 patients in our case series had a neurodevelopmental phenotype, whereby intellectual disability, delayed speech and language, and motor delay predominated.

Unveiling the Effects of Interval Resistance Training and Chlorella Vulgaris Supplementation on Meteorin-like Protein and Oxidative Stress in Obese Men.

Background: Dysregulation of adipocyte function occurs in obesity. Meteorin-like protein (Metrnl) is a newly discovered modulator of inflammation, metabolism, and differentiation of human adipocytes. The dietary supplement Chlorella Vulgaris (CV) reduces hyperlipidemia, hyperglycemia, and oxidative stress in clinical trials.

Abnormal Immune Profile in Individuals with Kabuki Syndrome.

Objective: To analyze the lymphocyte subsets in individuals with Kabuki syndrome for better characterizing the immunological phenotype of this rare congenital disorder.

Methods: We characterized the immunological profile including B-, T- and natural killer-cell subsets in a series (N = 18) of individuals with Kabuki syndrome.

Results: All 18 individuals underwent genetic analysis: 15 had a variant in KMT2D and 3 a variant in KDM6A.

Beneficial Physiological and Metabolic Effects with Acute Intake of New Zealand Blackcurrant Extract during 4 h of Indoor Cycling in a Male Ironman Athlete: A Case Study.

New Zealand blackcurrant (NZBC) is known to alter exercise-induced physiological and metabolic responses with chronic (i.e., 7 days) dosing.

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Purpose: Valproic acid or valproate is an effective antiepileptic drug; however, embryonic exposure to valproate can result in a teratogenic disorder referred to as fetal valproate syndrome (OMIM #609442). Currently there are no diagnostic biomarkers for the condition. This study aims to define an episignature biomarker for teratogenic antenatal exposure to valproate.

Adipokine modulation in obesity: Evaluating the integrative impact of chlorella vulgaris supplementation and interval resistance training in obese males.

Aims: To evaluate the effects of 12-week chlorella vulgaris (CV) combined with interval resistance training (IRT) on plasma levels of leptin, adiponectin and neuregulin-4 (Nrg-4) in obese men.

Methods: Obese men (n = 44, BMI of 32.1 ± 1.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm).

Effects of CurraNZ, a New Zealand Blackcurrant Extract during 1 Hour of Treadmill Running in Female and Male Marathon des Sables Athletes in Hot Conditions: Two Case Studies.

Four weeks before competition in the 2023 Marathon des Sables, a 6-stage, ~250 km running event in the Sahara Desert, we examined the effects of a 7-day intake of New Zealand blackcurrant extract (210 mg anthocyanins per day) on 1 h treadmill running-induced physiological and metabolic responses in the heat (~34 °C, relative humidity: ~30%) in non-acclimatized amateur female and male athletes (age: 23, 38 yrs, BMI: 24.2, 28.4 kg·m, body fat%: 29.

Enrichment of type 1 innate lymphoid cells in the course of human atherosclerotic plaque development suggests contribution to atherogenesis.

Introduction: Innate lymphoid cells (ILCs) have been implicated in multiple pathologic conditions, including atherogenesis, as documented in experimental mice studies, however, their role in atherosclerosis in humans remains unexplored.

Methods: Here, we identify ILCs and their dynamics in early, advanced, and complicated human carotid- and aortic atherosclerotic plaques, using a multiplex immunohistochemical quadruple-staining technique with prototypic transcription factors T-bet, GATA3, or RORgt for identification of the ILC1, ILC2 and ILC3 subsets, respectively, in combination with lineage markers CD3, CD20/ CD79a and CD56 to exclude other lymphoid cell types. ILC subsets were quantified, and to put this in perspective, their numbers were expressed as percentage of the total number of infiltrated lymphoid cells and related to the frequency of conventional T cells, B cells, NK cells, and NKT cells.