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The 23rd FEBS YSF was held from 26th to 29th June 2024 in Pavia, Italy. Over 100 PhD students and early postdoctoral researchers from around 30 different countries came together at the inspiring rooms of the University of Pavia for a four‐day event. This year's topic was 'Biochemistry for bridging the gap', meaning the opportunity to have a comprehensive perspective on all biochemistry applications. Four renowned keynote speakers presented their latest research, accompanied by four career‐focused speakers, as well as additional sessions on academic career opportunities, including fellowships, women in science, and laboratory sustainability. Additionally, 10 selected YSF participants gave short talks to a large audience, while the remaining attendees shared their research findings through flash talks and two dedicated poster sessions. Scientific exchange and networking were encouraged during the poster sessions, breaks, and the social events. The meeting was a prelude before attending the 48th FEBS congress, celebrated in Milan. The success of the series will be continued during the 24th YSF edition: 'Inspired by nature, driven by science', which will take place from 2nd to 5th July 2025 in Sapanca, Türkiye. [ABSTRACT FROM AUTHOR]

Purpose: The aim of the study is to explore the experience of eating disorder support group participants. The research question is "What is the experience of adults recovering from an eating disorder in a professionally-led monthly support group?" Design/methodology/approach: This qualitative study explored the experience of adults recovering from an eating disorder in a professionally-led monthly support group. Participants were 18 adults recovering from an eating disorder who attended a monthly support group. The data were collected using an online anonymous survey and then analysed using a thematic analysis. Findings: The main themes that emerged were: (1) sharing the pain and promise, (2) cautions and concerns and (3) facilitators have influence. The findings indicate that the support group provided a safe space to share their lived experience, that it reduced stigma and isolation, and improved participants' motivation and engagement. Moreover, the results revealed some challenges to the functioning of the group. These included management of discussions and dominant members, need for psycho-educational information and managing intense feelings, relating to body-related comparison and other mental disorder comorbidities. Originality/value: This is the first study highlighting the valuable role of the facilitator in balancing content with compassion, in ensuring safety in the group, and potentially fulfilling a valuable education function in supporting participants in their eating disorder recovery journey.

Desbuquois dysplasia type 1 (DBQD1) is a recessive chondrodysplasia caused by mutations in the CANT1 gene, encoding for the Golgi Calcium-Activated Nucleotidase 1 (CANT1). The enzyme hydrolyzes UDP, the by-product of glycosyltransferase reactions, but it might play other roles in different cell types. Using a Cant1 knock-out mouse, we demonstrated that CANT1 is crucial for glycosaminoglycan (GAG) synthesis; however, its impact on the biochemical properties of cartilage proteoglycans remains unknown. Thus, in this work, we characterized decorin and aggrecan from primary chondrocyte cultures and cartilage biopsies of mutant mice at post-natal day 4 by Western blots and further investigated their distribution in the cartilage extracellular matrix (ECM) by immunohistochemistry. We demonstrated that the GAG synthesis defect caused by CANT1 impairment led to the synthesis and secretion of proteoglycans with shorter GAG chains compared with wild-type animals. However, this alteration did not result in the synthesis and secretion of decorin and aggrecan in the unglycanated form. Interestingly, the defect was not cartilage-specific since also skin decorin showed a reduced hydrodynamic size. Finally, immunohistochemical studies in epiphyseal sections of mutant mice demonstrated that the proteoglycan structural defect moderately affected decorin distribution in the ECM. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to demonstrate the role of case-level American College of Medical Genetics (ACMG) criteria, such as familial segregation and pathology data, in providing conclusive evidence for the pathogenicity of ultrarare GLA variants causing Anderson–Fabry disease when gene-level and variant-level criteria provide ambiguous or discrepant results. Case/family description: A 52-year-old woman presented with new-onset shortness of breath, chest pain, and palpitations. Echocardiography revealed mild left ventricular wall thickening (14 mm) and mild diastolic dysfunction. She was the second of three siblings born to unrelated parents, both of whom died from malignancies. Family screening identified brothers, one affected 55-year-old with hypertension and asthma and one unaffected 47-year-old. The 15-year-old son of the proband complained of exercise-induced burning feet acral pain his electrocardiogram showed a short PR interval and signs of early hypertrophy. Results: Endomyocardial biopsies of the proband and the affected sibling demonstrated substrate accumulation (globotriaosylceramide). The anti-α-galactosidase-A immunostain showed a total loss of the enzyme in the hemizygous male and a mosaic pattern in the heterozygous female. The next-generation sequencing short-read multigene panel identified the c.547+3A>G variant in the GLA gene and excluded variants in other genes; Oxford-Nanopore long-read sequencing excluded known pathogenic deep intronic variants. A Multiplex-Ligation-dependent-Probe-Amplification assay excluded copy number variations. Based on the variant-level and gene-level ACMG criteria, the variant was classified as a Variant of Uncertain Significance or Likely Benign using different bioinformatic tools. By adding case-level functional data (endomyocardial biopsy, PS3_VeryStrong) and familial data (segregation of genotype with phenotype, PP2_Moderate), the variant was classified as Likely Pathogenic/Pathogenic. Conclusion: ACMG case-level data can unambiguously resolve uncertain interpretations of GLA variants. [ABSTRACT FROM AUTHOR]

A recent comprehensive investigation by Comcare (2021) has elucidated the real and severe mental health problems suffered by truck drivers on Australian roads, reporting that 36.7% of all Australian truck drivers experience moderate to severe psychological complaints, including suicidality. Reasons for such poor mental health included unrealistic demands, lack of respect, and compromised support systems. The current paper, however, argues that a largely hidden but common role of "lay rescuer" is also a significant contributing factor to the mental health decline in truck drivers in Australia. Unfortunately, the prevalence, impact, and best practice intervention strategies for this occurrence is unknown in the literature. This paper therefore aimed to highlight this hidden role of truck drivers with a qualitative scoping review of both published and grey literature, on what is already known generally about the effects of being a lay rescuer on the untrained bystander. Nine relevant papers were found, reviewed, and summarised. Conclusions drawn were that bystanders who become lay rescuers commonly experience symptoms similar to post traumatic stress disorder, and largely do not receive any formal mental health interventions to help cope with the resultant symptoms, weeks or months after the incident. This represents initial evidence that the lay rescuer role for Australian truck drivers may also contribute to their poor mental health. Interventions and organisational policy changes should ensure truck drivers who are also lay rescuers receive the care they need. Research limitations and future recommendations are discussed. [ABSTRACT FROM AUTHOR]

Sulfate is the fourth most abundant anion in human plasma but is not measured in clinical practice and little is known about the consequences of sulfate deficiency. Nevertheless, sulfation plays an essential role in the modulation of numerous compounds, including proteoglycans and steroids. We report the first patient with a homozygous loss‐of‐function variant in the SLC13A1 gene, encoding a renal and intestinal sulfate transporter, which is essential for maintaining plasma sulfate levels. The homozygous (Arg12Ter) variant in SLC13A1 was found by exome sequencing performed in a patient with unexplained skeletal dysplasia. The main clinical features were enlargement of joints and spondylo‐epi‐metaphyseal radiological abnormalities in early childhood, which improved with age. In addition, autistic features were noted. We found profound hyposulfatemia due to complete loss of renal sulfate reabsorption. Cholesterol sulfate was reduced. Intravenous N‐acetylcysteine administration temporarily restored plasma sulfate levels. We conclude that loss of the SLC13A1 gene leads to profound hypersulfaturia and hyposulfatemia, which is mainly associated with abnormal skeletal development, possibly predisposing to degenerative bone and joint disease. The diagnosis might be easily missed and more frequent. [ABSTRACT FROM AUTHOR]

Several experimental protocols are available to study the synthesis and secretion of proteoglycans in health and diseases, but there are few methods to analyse the intracellular processing of these macromolecules. We report a western blot analysis on medium and cell layer of primary chondrocyte culture to determine the glycanation status of aggrecan. Using a specific antibody against the aggrecan core protein and digesting an aliquot of sample with chondroitinase ABC, it is possible to analyse the whole aggrecan macromolecule and the core protein in order to evaluate defects in aggrecan glycanation., (© 2023. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.)