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Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.

Outcomes following intensive day rehabilitation for young people in Western Australia

Intensive rehabilitation aims to improve and maintain functioning in young people who experience disability due to illness or injury. Day rehabilitation may have advantages for families and healthcare systems over inpatient models of rehabilitation. 

In vivo loss of tumorigenicity in a patient-derived orthotopic xenograft mouse model of ependymoma

Ependymomas (EPN) are the third most common malignant brain cancer in children. Treatment strategies for pediatric EPN have remained unchanged over recent decades, with 10-year survival rates stagnating at just 67% for children aged 0-14 years. Moreover, a proportion of patients who survive treatment often suffer long-term neurological side effects as a result of therapy. It is evident that there is a need for safer, more effective treatments for pediatric EPN patients.

Streptococcus pyogenes Surveillance Through Surface Swab Samples to Track the Emergence of Streptococcal Toxic Shock Syndrome in Rural Japan

Japan recently experienced a record surge in streptococcal toxic shock syndrome. Our environmental surveillance study reveals that Streptococcus pyogenes persists seasonally, peaking in autumn and winter in rural Japan. The dominant emm1 M1UK sublineage and csrS mutations heighten virulence, highlighting the urgent need for targeted surveillance and interventions.

Combination of curcumin or chitosan with photodynamic therapy as an effective alternative therapy for overcoming wound infection associated with multidrug-resistant Acinetobacter baumannii

The increasing prevalence of multidrug-resistant Acinetobacter baumannii as an opportunistic pathogen in wound infections raises significant concerns due to its antibiotic resistance and biofilm-mediated antibiotic tolerance. This underscores the urgent need to explore an alternative approach to effectively managing wound infections caused by MDR A. baumannii.

Lentiviral vector gene therapy and CFTR modulators show comparable effectiveness in cystic fibrosis rat airway models

Mutation-agnostic treatments such as airway gene therapy have the potential to treat any individual with cystic fibrosis (CF), irrespective of their CF transmembrane conductance regulator (CFTR) gene variants. The aim of this study was to employ two CF rat models, Phe508del and CFTR knockout to assess the comparative effectiveness of CFTR modulators and lentiviral vector-mediated gene therapy. 

Human Primary Epithelial Cell Models: Promising Tools in the Era of Cystic Fibrosis Personalized Medicine

In this Review, we consolidate the latest updates in the development of primary epithelial cellular model systems relevant for cystic fibrosis

The relationship between non-communicable disease risk and mental wellbeing in adolescence: a cross-sectional study utilising objective measures in Indonesia

Risk factors for non-communicable diseases (NCDs, cardiovascular diseases, cancers, chronic respiratory diseases, diabetes, and mental disorders) arise in adolescence but are mostly framed as relevant to health in adulthood; little is known about the relationship between co-occurring NCD risks and mental wellbeing in young people.

Perinatal psychiatric emergencies in rural Australia: In urgent need of attention

The burden of perinatal mental illness is a significant global concern, affecting approximately 10–20% of women at this stage of life. It is well recognised that Rural Australia has far less health services and mental health specialists per capita than metropolitan regions. 

Infant feeding and growth trajectory patterns in childhood and body composition in young adulthood

Full breastfeeding for <3 months compared with ≥3 months may be associated with rapid growth in early childhood and body composition in young adulthood